| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADSS2_chr1_244403494_244456909 | 244444514 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107a0001c0001t0004g0268a0001c0001t0004g0297 | 3 | 408 | 0.0074 | 17 | c.184 others(34): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
| ADTRP_chr6_11708523_11783803 | 11779949 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0093a0001c0001t0002g0377a0001c0001t0006g0387 | 3 | 410 | 0.0073 | 17 | c.-12 others(28): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 1147 | chr6 | TogoVar | ||||||
| AEBP2_chr12_19434492_19527227 | 19468126 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0032 | 1 | 404 | 0.0025 | 17 | c.880 others(34): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | chr12 | TogoVar | ||||||
| AEBP2_chr12_19434492_19527227 | 19526830 | A | AAATTGCA others(10): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 404 | 0.0025 | 17 | c.*87 others(28): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4604 | chr12 | TogoVar | ||||||
| AFAP1L1_chr5_149266859_149348637 | 149307818 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03098.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0059a0001c0001t0001g0088a0001c0001t0001g0209others(4): Show | 7 | 286 | 0.0245 | 17 | c.747 others(32): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 7/18 | chr5 | TogoVar | ||||||
| AFAP1L2_chr10_114289824_114409502 | 114314761 | T | TCCTTGCT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0003a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(14): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0040others(134): Show | 137 | 262 | 0.5229 | 17 | c.613 others(32): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 6/18 | chr10 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7806654 | A | AATGGTCA others(10): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 318 | 0.0031 | 17 | c.105 others(36): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 9/17 | chr4 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7827569 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18522.hp2 NA18939.hp1 others(3): Show |
a0001a0003 | a0001c0007a0001c0012a0003c0041 | a0001c0007t0006a0001c0007t0067a0001c0012t0018others(1): Show | a0001c0007t0006g0189a0001c0007t0006g0228a0001c0007t0006g0235others(3): Show | 6 | 318 | 0.0189 | 17 | c.727 others(34): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
| AFF1_chr4_86930011_87146039 | 86957597 | C | CAGTGTTG others(10): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 294 | 0.0034 | 17 | c.38+ others(32): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| AFF1_chr4_86930011_87146039 | 86969879 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01074.hp2 others(7): Show |
a0001a0008 | a0001c0001a0008c0027 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0029a0001c0001t0002g0041a0001c0001t0002g0052others(7): Show | 10 | 294 | 0.0340 | 17 | c.38+ others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| AFF1_chr4_86930011_87146039 | 86978177 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02083.hp1 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0042a0001c0001t0002g0025a0001c0001t0002g0068others(6): Show | 9 | 294 | 0.0306 | 17 | c.38+ others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| AFF1_chr4_86930011_87146039 | 86985170 | A | ATTACTAT others(10): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 294 | 0.0034 | 17 | c.38+ others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
| AFF1_chr4_86930011_87146039 | 86985215 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 294 | 0.0034 | 17 | c.38+ others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
| AFF1_chr4_86930011_87146039 | 87063228 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18612.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0031a0001c0001t0001g0140a0001c0001t0047g0148 | 3 | 294 | 0.0102 | 17 | c.105 others(38): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| AFF1_chr4_86930011_87146039 | 87115625 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01169.hp2 NA18981.hp1 NA19057.hp2 |
a0001a0009 | a0001c0001a0009c0024 | a0001c0001t0001a0001c0001t0012a0009c0024t0001 | a0001c0001t0001g0149a0001c0001t0012g0128a0009c0024t0001g0150 | 3 | 294 | 0.0102 | 17 | c.246 others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 12/20 | chr4 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148614742 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 169 | 0.0059 | 17 | c.48- others(34): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF2_chrX_148495617_149005663 | 148795832 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0133 | 1 | 169 | 0.0059 | 17 | c.104 others(38): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF2_chrX_148495617_149005663 | 148975943 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02738.hp1 HG04228.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0060others(3): Show | a0001c0001t0001g0082a0001c0001t0005g0001a0001c0001t0060g0067others(3): Show | 6 | 169 | 0.0355 | 17 | c.340 others(36): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF2_chrX_148495617_149005663 | 148983953 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01192.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(20): Show | a0001c0001t0001g0039a0001c0001t0007g0048a0001c0001t0008g0073others(20): Show | 23 | 169 | 0.1361 | 17 | c.362 others(36): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF2_chrX_148495617_149005663 | 148985285 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0079 | a0001c0003t0079g0161 | 1 | 169 | 0.0059 | 17 | c.362 others(36): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF3_chr2_99540419_100147590 | 99724271 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01106.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0023a0001c0001t0002g0032a0001c0001t0009g0018others(5): Show | 8 | 100 | 0.0800 | 17 | c.109 others(36): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 11/24 | chr2 | TogoVar | ||||||
| AFF3_chr2_99540419_100147590 | 99946473 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0070 | 1 | 100 | 0.0100 | 17 | c.873 others(36): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
| AFF3_chr2_99540419_100147590 | 99977787 | G | GGTGATGA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG01358.hp1 others(5): Show |
a0001a0002 | a0001c0005a0002c0013 | a0001c0005t0001a0001c0005t0003a0001c0005t0004others(4): Show | a0001c0005t0001g0070a0001c0005t0003g0071a0001c0005t0004g0083others(5): Show | 8 | 100 | 0.0800 | 17 | c.873 others(36): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
| AFMID_chr17_78182362_78212702 | 78187960 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0389 | 1 | 446 | 0.0022 | 17 | c.63+ others(30): Show |
AFMID | ENSG00000183077.16 | transcript | ENST00000409257.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AFTPH_chr2_64519328_64598005 | 64555989 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG02523.hp1 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0004a0002c0002t0002a0002c0002t0003others(5): Show | a0001c0001t0004g0276a0002c0002t0002g0005a0002c0002t0002g0333others(17): Show | 21 | 372 | 0.0565 | 17 | c.193 others(36): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AFTPH_chr2_64519328_64598005 | 64577332 | G | GTATCCTG others(10): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02970.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0232a0003c0003t0008g0263a0003c0003t0008g0264others(2): Show | 5 | 372 | 0.0134 | 17 | c.239 others(36): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235643457 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0051 | 1 | 98 | 0.0102 | 17 | c.164 others(36): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235763989 | T | TGCAGCTG others(10): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01884.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0003a0001c0003t0002a0001c0003t0003others(11): Show | a0001c0001t0003g0034a0001c0001t0003g0090a0001c0003t0002g0005others(12): Show | 15 | 98 | 0.1531 | 17 | c.673 others(36): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235763989 | T | TGCGGCTA others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0046a0001c0001t0003g0036a0001c0001t0007g0008others(4): Show | 7 | 98 | 0.0714 | 17 | c.673 others(36): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235764000 | T | TCCGTGCG others(10): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp2 HG02083.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0027others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0049a0001c0001t0002g0070others(17): Show | 20 | 98 | 0.2041 | 17 | c.673 others(36): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 236098620 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 HG03195.hp2 |
a0001 | a0001c0002a0001c0005a0001c0008 | a0001c0002t0039a0001c0005t0001a0001c0008t0001 | a0001c0002t0039g0059a0001c0005t0001g0057a0001c0008t0001g0061 | 3 | 98 | 0.0306 | 17 | c.211 others(38): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP2_chr12_57720197_57743742 | 57728828 | T | TGGTCAAG others(10): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0061 | 1 | 382 | 0.0026 | 17 | c.255 others(34): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 13/18 | chr12 | TogoVar | ||||||
| AGAP5_chr10_73669295_73703109 | 73669760 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 368 | 0.0027 | 17 | c.*48 others(28): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 4534 | chr10 | TogoVar | ||||||
| AGBL1_chr15_86074871_86921156 | 86250525 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0011 | 1 | 132 | 0.0076 | 17 | c.735 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL1_chr15_86074871_86921156 | 86262078 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG03834.hp1 others(1): Show |
a0001a0003a0009others(1): Show | a0001c0057a0003c0036a0009c0037others(1): Show | a0001c0057t0001a0003c0036t0005a0009c0037t0004others(1): Show | a0001c0057t0001g0067a0003c0036t0005g0081a0009c0037t0004g0043others(1): Show | 4 | 132 | 0.0303 | 17 | c.970 others(32): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL1_chr15_86074871_86921156 | 86386194 | T | TTCCTCCA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02630.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0021a0001c0007t0030 | a0001c0001t0001g0107a0001c0001t0001g0110a0001c0007t0021g0096others(1): Show | 4 | 132 | 0.0303 | 17 | c.237 others(38): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL1_chr15_86074871_86921156 | 86501088 | A | AAATTTGA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 NA18906.hp2 |
a0001a0003a0004 | a0001c0059a0003c0041a0004c0009 | a0001c0059t0001a0003c0041t0017a0004c0009t0049 | a0001c0059t0001g0011a0003c0041t0017g0117a0004c0009t0049g0071 | 3 | 132 | 0.0227 | 17 | c.255 others(38): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL1_chr15_86074871_86921156 | 86825387 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(3): Show |
a0001a0020 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0051a0001c0004t0020a0001c0006t0045others(3): Show | a0001c0003t0051g0024a0001c0004t0020g0080a0001c0006t0045g0044others(3): Show | 6 | 132 | 0.0455 | 17 | c.315 others(38): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 356 | 0.0028 | 17 | c.848 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
| AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18941.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0161a0001c0001t0001g0282 | 3 | 356 | 0.0084 | 17 | c.848 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
| AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG04115.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0191a0001c0001t0001g0194others(2): Show | 5 | 356 | 0.0140 | 17 | c.848 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
| AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0321 | 2 | 356 | 0.0056 | 17 | c.848 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
| AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0312 | 2 | 356 | 0.0056 | 17 | c.848 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 48964347 | A | AATTTAGC others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0082a0001c0001t0002g0097a0001c0001t0003g0101others(5): Show | 8 | 104 | 0.0769 | 17 | c.594 others(36): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49207468 | C | CTTTTTCT others(10): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0042a0001c0002t0009g0004 | 2 | 104 | 0.0192 | 17 | c.377 others(36): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49530259 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011 | a0001c0001t0003g0103a0001c0001t0004g0095a0001c0001t0011g0096 | 3 | 104 | 0.0289 | 17 | c.282 others(38): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49971907 | G | GTTGTTTT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 104 | 0.0096 | 17 | c.34+ others(34): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49971907 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 104 | 0.0096 | 17 | c.34+ others(34): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| AGFG2_chr7_100534203_100573220 | 100551030 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0067 | 1 | 246 | 0.0041 | 17 | c.431 others(32): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0105 | 1 | 318 | 0.0031 | 17 | c.370 others(36): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |