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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(994): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 125 | 0.0080 | 1001 | c.389 others(1022): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(994): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0033 | 1 | 125 | 0.0080 | 1001 | c.389 others(1022): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(994): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0284 | 1 | 42 | 0.0238 | 1001 | c.916 others(1018): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(994): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0274 a0001c0001t0007g0280 a0001c0001t0007g0282 |
3 | 4 | 0.7500 | 1001 | c.*57 others(1012): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(994): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 2 | 0.5000 | 1001 | c.*57 others(1012): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(994): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 82 | 0.0122 | 1001 | c.646 others(1018): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930772 | A | AGGGGTTA others(994): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0162 |
3 | 116 | 0.0259 | 1001 | c.*48 others(1012): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4597 | chr11 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(994): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 100 | 0.0100 | 1001 | c.-10 others(1018): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(994): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0003 a0001c0002t0008g0212 a0001c0002t0008g0217 others(3): Show |
8 | 187 | 0.0428 | 1001 | c.97+ others(1016): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(994): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0249 | 1 | 180 | 0.0056 | 1001 | c.97+ others(1016): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(994): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0252 | 1 | 180 | 0.0056 | 1001 | c.97+ others(1016): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(994): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0020 | a0001c0002t0004g0008 a0001c0002t0004g0240 a0001c0002t0004g0241 others(11): Show |
16 | 195 | 0.0821 | 1001 | c.97+ others(1016): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173193 | T | TCCACCCA others(995): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 | 1 | 308 | 0.0032 | 1002 | c.61+ others(1017): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173311 | C | CCACACAT others(995): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0079 | 1 | 317 | 0.0032 | 1002 | c.61+ others(1017): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288793 | C | CCGTGTCT others(995): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0190 | 1 | 261 | 0.0038 | 1002 | c.*47 others(1013): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3597 | chr1 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581415 | T | TACACGTA others(995): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 63 | 0.0159 | 1002 | c.48- others(1019): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(995): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG03453.hp1 |
a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0023 a0002c0007t0003g0060 |
3 | 305 | 0.0098 | 1002 | c.578 others(1017): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(995): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0107 | 1 | 8 | 0.1250 | 1002 | c.285 others(1021): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(995): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01346.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 a0001c0002t0003g0147 a0001c0002t0003g0149 others(2): Show |
5 | 194 | 0.0258 | 1002 | c.273 others(1019): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(995): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 223 | 0.0045 | 1002 | c.*36 others(1013): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(995): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0124 |
2 | 11 | 0.1818 | 1002 | c.327 others(1019): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(995): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01099.hp2 others(18): Show |
a0001a0008 | a0001c0001a0001c0013a0008c0007 | a0001c0001t0001a0001c0001t0011a0001c0013t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0001g0102 others(17): Show |
21 | 30 | 0.7000 | 1002 | c.327 others(1019): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(995): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 10 | 0.1000 | 1002 | c.327 others(1019): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004411 | T | TGATGGTA others(995): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0031 a0013c0017t0001g0032 a0013c0017t0001g0038 |
3 | 230 | 0.0130 | 1002 | c.963 others(1019): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(995): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 |
a0005 | a0005c0007 | a0005c0007t0002a0005c0007t0003 | a0005c0007t0002g0251 a0005c0007t0003g0276 |
2 | 173 | 0.0116 | 1002 | c.672 others(1017): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(995): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 172 | 0.0058 | 1002 | c.672 others(1017): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(995): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(4): Show |
8 | 46 | 0.1739 | 1002 | c.177 others(1021): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(995): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 39 | 0.0256 | 1002 | c.177 others(1021): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(995): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 39 | 0.0256 | 1002 | c.177 others(1021): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(995): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0167 | 1 | 174 | 0.0057 | 1002 | c.342 others(1023): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(995): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 174 | 0.0057 | 1002 | c.342 others(1023): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(995): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0058 | a0001c0058t0002 | a0001c0058t0002g0127 | 1 | 13 | 0.0769 | 1002 | c.109 others(1021): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(995): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0192 | 1 | 137 | 0.0073 | 1002 | c.724 others(1021): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(995): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0017 | a0017c0047 | a0017c0047t0001 | a0017c0047t0001g0143 | 1 | 86 | 0.0116 | 1002 | c.*39 others(1013): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947779 | A | ATGGTGGT others(995): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0050 | a0003c0050t0003 | a0003c0050t0003g0129 | 1 | 116 | 0.0086 | 1002 | c.47- others(1019): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551500 | G | GGAAGAGG others(995): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 35 | 0.0286 | 1002 | c.-17 others(1021): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FNDC3B_chr3_172034578_172406669 | 172168965 | G | GGCCTCCC others(995): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01069.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0002g0106 others(20): Show |
23 | 182 | 0.1264 | 1002 | c.187 others(1021): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FNDC3B_chr3_172034578_172406669 | 172168965 | G | GGCCTCCC others(995): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01891.hp1 HG02257.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0012a0001c0001t0045a0001c0002t0002others(7): Show | a0001c0001t0012g0041 a0001c0001t0045g0194 a0001c0002t0002g0050 others(7): Show |
10 | 169 | 0.0592 | 1002 | c.187 others(1021): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FNDC3B_chr3_172034578_172406669 | 172168965 | G | GGCCTCCC others(995): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0077 a0001c0001t0010g0144 |
2 | 161 | 0.0124 | 1002 | c.187 others(1021): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252902 | C | CCACCACC others(995): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0027 | 1 | 356 | 0.0028 | 1002 | c.666 others(1019): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(995): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0250 | 1 | 337 | 0.0030 | 1002 | c.666 others(1019): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(995): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 132 | 0.0076 | 1002 | c.94- others(1015): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(995): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 2 | 133 | 0.0150 | 1002 | c.94- others(1015): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(995): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 132 | 0.0076 | 1002 | c.94- others(1015): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(995): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 207 | 0.0048 | 1002 | c.41- others(1017): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399229 | C | CCGCCGCT others(995): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 301 | 0.0033 | 1002 | c.-25 others(1019): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(995): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0038 | 1 | 210 | 0.0048 | 1002 | c.292 others(1021): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(995): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG01975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0029a0001c0001t0046others(1): Show | a0001c0001t0009g0008 a0001c0001t0029g0113 a0001c0001t0046g0043 others(1): Show |
4 | 255 | 0.0157 | 1002 | c.*66 others(1013): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(995): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0044 a0001c0003t0001g0056 |
2 | 17 | 0.1176 | 1002 | c.56- others(1019): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(995): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03098.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0012a0001c0003t0001a0001c0004t0020 | a0001c0002t0012g0023 a0001c0003t0001g0053 a0001c0004t0020g0001 |
3 | 18 | 0.1667 | 1002 | c.56- others(1019): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar |