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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADRA1D_chr20_4215630_4254287 | 4227704 | CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0388 | 1 | 452 | 0.0022 | -16 | c.111 others(35): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244435587 | CCTCCACC others(9): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 408 | 0.0025 | -16 | c.355 others(33): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11727963 | GAGGGAGG others(9): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0135 | 1 | 410 | 0.0024 | -16 | c.507 others(33): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149291535 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0003 | a0001c0001t0002g0052a0004c0004t0003g0019 | 2 | 286 | 0.0070 | -16 | c.17- others(31): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149346715 | ATTTTTTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0001g0055a0001c0001t0003g0016others(4): Show | 7 | 286 | 0.0245 | -16 | c.*66 others(27): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 3079 | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114312234 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(20): Show | a0001c0001t0001g0109a0001c0001t0001g0149a0001c0001t0004g0082others(58): Show | 61 | 262 | 0.2328 | -16 | c.792 others(33): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 7/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114360493 | ATAGATAG others(9): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 262 | 0.0038 | -16 | c.17- others(33): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114368767 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA19043.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0003a0003c0007t0006 | a0001c0002t0003g0185a0003c0007t0006g0151 | 2 | 262 | 0.0076 | -16 | c.17- others(33): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167957756 | GTGGCTGC others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0021others(14): Show | a0001c0001t0003g0282a0001c0001t0003g0283a0001c0003t0001g0007others(102): Show | 106 | 326 | 0.3252 | -16 | c.483 others(35): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 30/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFDN_chr6_167821911_167977023 | 167964614 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0178 | 1 | 326 | 0.0031 | -16 | c.496 others(35): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86941651 | CATAAATA others(9): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 294 | 0.0034 | -16 | c.-37 others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86982848 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 294 | 0.0034 | -16 | c.38+ others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86985181 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02723.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0032 | a0001c0001t0001a0001c0005t0041a0001c0005t0043others(3): Show | a0001c0001t0001g0147a0001c0001t0001g0152a0001c0005t0041g0175others(4): Show | 7 | 294 | 0.0238 | -16 | c.38+ others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87000605 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA21309.hp2 |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0001a0010c0015t0055 | a0001c0001t0001g0168a0010c0015t0055g0012 | 2 | 294 | 0.0068 | -16 | c.39- others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87022578 | ATATATCT others(9): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG04204.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018 | a0001c0001t0002g0025a0001c0001t0002g0054a0001c0001t0003g0061others(1): Show | 4 | 294 | 0.0136 | -16 | c.39- others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87073280 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 NA21309.hp2 |
a0001a0010a0018 | a0001c0025a0010c0015a0018c0013 | a0001c0025t0003a0010c0015t0055a0018c0013t0070 | a0001c0025t0003g0111a0010c0015t0055g0012a0018c0013t0070g0010 | 3 | 294 | 0.0102 | -16 | c.106 others(37): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87084550 | CAATAAAT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG01167.hp1 others(41): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0042a0001c0001t0001g0270a0001c0001t0002g0029others(41): Show | 44 | 294 | 0.1497 | -16 | c.110 others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87084589 | TAAATAAA others(9): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0005a0001c0001t0003g0006others(5): Show | 8 | 294 | 0.0272 | -16 | c.110 others(33): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87138490 | GGTGTGTG others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 NA20129.hp2 |
a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0243a0001c0004t0022g0251 | 2 | 294 | 0.0068 | -16 | c.*28 others(27): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 21/21 | 2806 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
AFF2_chrX_148495617_149005663 | 148849363 | TCCTCCCC others(9): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0098a0001c0001t0110 | a0001c0001t0046g0165a0001c0001t0098g0119a0001c0001t0110g0118 | 3 | 169 | 0.0178 | -16 | c.126 others(35): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148897257 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0157 | 1 | 169 | 0.0059 | -16 | c.136 others(35): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99634964 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0089 | 1 | 100 | 0.0100 | -16 | c.118 others(37): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99672176 | TCTCACAC others(9): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0015 | 1 | 100 | 0.0100 | -16 | c.114 others(33): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 12/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99778881 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 100 | 0.0100 | -16 | c.922 others(35): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99947601 | AAGATAGA others(9): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 100 | 0.0100 | -16 | c.873 others(35): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
AFMID_chr17_78182362_78212702 | 78193370 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0350 | 1 | 446 | 0.0022 | -16 | c.154 others(33): Show |
AFMID | ENSG00000183077.16 | transcript | ENST00000409257.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AFM_chr4_73476745_73509001 | 73484440 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0181others(3): Show | 8 | 368 | 0.0217 | -16 | c.270 others(31): Show |
AFM | ENSG00000079557.5 | transcript | ENST00000226355.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64545570 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0219 | 2 | 372 | 0.0054 | -16 | c.-32 others(33): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64550677 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0095a0001c0001t0001g0107a0001c0001t0001g0120others(74): Show | 78 | 372 | 0.2097 | -16 | c.-32 others(31): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64576074 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG02886.hp2 others(8): Show |
a0002a0008 | a0002c0002a0008c0017 | a0002c0002t0002a0002c0002t0003a0008c0017t0003 | a0002c0002t0002g0283a0002c0002t0002g0284a0002c0002t0002g0327others(8): Show | 11 | 372 | 0.0296 | -16 | c.239 others(35): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235521738 | ATATATGT others(9): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0038 | a0001c0001t0007g0008a0001c0002t0038g0086 | 2 | 98 | 0.0204 | -16 | c.163 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235573045 | CTTCTTCT others(9): Show |
C | intron_variant | MODIFIER | HG04199.hp2 NA20300.hp2 |
a0001a0002 | a0001c0017a0002c0020 | a0001c0017t0008a0002c0020t0001 | a0001c0017t0008g0092a0002c0020t0001g0022 | 2 | 98 | 0.0204 | -16 | c.163 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235589189 | GTTTTGTT others(9): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0001 | a0001c0001t0008g0069a0001c0006t0001g0016 | 2 | 98 | 0.0204 | -16 | c.163 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235629268 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0005a0001c0001t0011a0001c0001t0044others(2): Show | a0001c0001t0005g0007a0001c0001t0011g0020a0001c0001t0044g0041others(2): Show | 5 | 98 | 0.0510 | -16 | c.164 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235651184 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0047a0001c0001t0002g0049others(17): Show | 20 | 98 | 0.2041 | -16 | c.164 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235677906 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0010a0001c0016 | a0001c0001t0024a0001c0010t0001a0001c0016t0007 | a0001c0001t0024g0077a0001c0010t0001g0032a0001c0016t0007g0089 | 3 | 98 | 0.0306 | -16 | c.164 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235686550 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp2 HG01928.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0004 | a0001c0002t0006a0001c0002t0034a0001c0006t0001others(3): Show | a0001c0002t0006g0093a0001c0002t0034g0084a0001c0006t0001g0016others(3): Show | 6 | 98 | 0.0612 | -16 | c.164 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235686614 | GATATAGA others(9): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0005a0001c0003t0003g0001 | 2 | 98 | 0.0204 | -16 | c.164 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235787869 | AGAGCGTT others(9): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01192.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0010a0001c0002t0001others(17): Show | a0001c0001t0003g0034a0001c0001t0003g0090a0001c0001t0010g0014others(19): Show | 22 | 98 | 0.2245 | -16 | c.674 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235950887 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02622.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0046a0001c0001t0003g0034a0001c0001t0003g0036others(11): Show | 14 | 98 | 0.1429 | -16 | c.148 others(37): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235995065 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0038a0001c0002t0042 | a0001c0002t0038g0086a0001c0002t0042g0067 | 2 | 98 | 0.0204 | -16 | c.164 others(37): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 236043605 | TAATCCCG others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0021 | a0001c0001t0003g0063a0001c0003t0021g0023 | 2 | 98 | 0.0204 | -16 | c.189 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 236078037 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03579.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0004a0001c0002t0013 | a0001c0001t0026g0095a0001c0002t0004g0079a0001c0002t0013g0035 | 3 | 98 | 0.0306 | -16 | c.211 others(37): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGA_chr4_177425774_177447437 | 177435943 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 2 | 442 | 0.0045 | -16 | c.698 others(31): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86158772 | AGAATGAC others(9): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02451.hp1 others(19): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0111a0001c0001t0003g0100a0001c0001t0005g0106others(19): Show | 22 | 132 | 0.1667 | -16 | c.395 others(31): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86196858 | TGTGCACA others(9): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03654.hp2 NA18944.hp1 |
a0001 | a0001c0003a0001c0042 | a0001c0003t0056a0001c0003t0063a0001c0042t0005 | a0001c0003t0056g0026a0001c0003t0063g0023a0001c0042t0005g0092 | 3 | 132 | 0.0227 | -16 | c.489 others(35): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86250525 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03540.hp2 NA20129.hp1 |
a0001a0017 | a0001c0003a0001c0056a0017c0025 | a0001c0003t0051a0001c0056t0031a0017c0025t0065 | a0001c0003t0051g0024a0001c0056t0031g0055a0017c0025t0065g0022 | 3 | 132 | 0.0227 | -16 | c.735 others(33): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86301641 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02895.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0033 | a0001c0001t0006a0001c0001t0008a0001c0001t0047others(1): Show | a0001c0001t0006g0093a0001c0001t0008g0102a0001c0001t0047g0014others(1): Show | 4 | 132 | 0.0303 | -16 | c.237 others(35): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86386102 | TCCTCCTC others(9): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG02055.hp1 HG02922.hp2 others(3): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0003a0006c0014others(2): Show | a0001c0001t0003a0001c0003t0008a0006c0014t0054others(3): Show | a0001c0001t0003g0113a0001c0003t0008g0125a0006c0014t0054g0021others(3): Show | 6 | 132 | 0.0455 | -16 | c.237 others(37): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86625369 | TTTTTTTT others(9): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0014 | a0014c0043 | a0014c0043t0001 | a0014c0043t0001g0121 | 1 | 132 | 0.0076 | -16 | c.299 others(37): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |