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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95268522 | TCCCTTGG | T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01074.hp2 others(105): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(77): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144others(105): Show | 108 | 248 | 0.4355 | -7 | c.75- others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95278110 | CACAGGTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01243.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(26): Show | a0001c0001t0001g0169a0001c0001t0001g0189a0001c0001t0001g0240others(28): Show | 31 | 248 | 0.1250 | -7 | c.74+ others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183989157 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00735.hp1 others(71): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0013a0001c0023others(3): Show | a0001c0002t0001a0001c0002t0008a0001c0013t0003others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(67): Show | 74 | 378 | 0.1958 | -7 | c.287 others(20): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16170939 | AAAGAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(11): Show |
a0001a0003a0004 | a0001c0002a0001c0028a0003c0005others(3): Show | a0001c0002t0001a0001c0028t0001a0003c0005t0001others(3): Show | a0001c0002t0001g0023a0001c0002t0001g0024a0001c0002t0001g0054others(11): Show | 14 | 357 | 0.0392 | -7 | c.278 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172452 | GGTGGGAT | G | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02922.hp2 others(2): Show |
a0001a0014 | a0001c0004a0014c0018 | a0001c0004t0001a0014c0018t0001 | a0001c0004t0001g0065a0014c0018t0001g0249a0014c0018t0001g0250others(2): Show | 5 | 357 | 0.0140 | -7 | c.278 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16181344 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00733.hp2 others(34): Show |
a0001a0004a0011others(5): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(15): Show | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0202others(34): Show | 37 | 357 | 0.1036 | -7 | c.224 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 17/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16181767 | TACTAAAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02895.hp1 others(2): Show |
a0012a0030 | a0012c0025a0012c0030a0030c0046 | a0012c0025t0001a0012c0030t0001a0030c0046t0001 | a0012c0025t0001g0007a0012c0025t0001g0008a0012c0030t0001g0113others(2): Show | 5 | 357 | 0.0140 | -7 | c.224 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 17/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17389839 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(64): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(34): Show | a0001c0001t0001g0058a0001c0001t0001g0185a0001c0001t0001g0275others(61): Show | 67 | 330 | 0.2030 | -7 | c.*31 others(18): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3045 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT | G | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0107a0001c0001t0001g0111others(6): Show | 9 | 212 | 0.0425 | -7 | c.389 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(107): Show | 110 | 212 | 0.5189 | -7 | c.347 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21896093 | TTTTTTAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(105): Show | 109 | 212 | 0.5142 | -7 | c.161 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306157 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01256.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0017t0002 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0021others(6): Show | 18 | 384 | 0.0469 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3224 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306159 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp2 others(17): Show |
a0001 | a0001c0001a0001c0015a0001c0016 | a0001c0001t0002a0001c0015t0002a0001c0016t0002 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0021others(10): Show | 20 | 384 | 0.0521 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3226 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306163 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02683.hp1 HG03579.hp2 NA18949.hp2 |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0014 | a0001c0001t0003a0003c0003t0019a0010c0014t0001 | a0001c0001t0003g0141a0003c0003t0019g0128a0010c0014t0001g0065 | 3 | 384 | 0.0078 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3230 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306165 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00738.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0105a0002c0002t0001g0003a0002c0002t0001g0004others(12): Show | 22 | 384 | 0.0573 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3232 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306166 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(44): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0001a0002c0002t0024a0002c0012t0001others(2): Show | a0002c0002t0001g0004a0002c0002t0001g0013a0002c0002t0001g0015others(29): Show | 47 | 384 | 0.1224 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3233 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306168 | ATATATTT | A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0027others(3): Show | 7 | 384 | 0.0182 | -7 | c.-32 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3235 | chr14 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42217679 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01167.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0001g0327others(21): Show | 24 | 354 | 0.0678 | -7 | c.-15 others(18): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1460 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42293609 | CCACACTA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0096a0001c0001t0001g0200a0001c0001t0001g0328others(60): Show | 64 | 354 | 0.1808 | -7 | c.165 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42293756 | TACATACC | T | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0155a0001c0001t0002g0090a0001c0001t0002g0273others(9): Show | 12 | 354 | 0.0339 | -7 | c.165 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88115621 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01074.hp1 others(31): Show |
a0001a0008a0010 | a0001c0001a0001c0005a0008c0011others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(31): Show | 34 | 350 | 0.0971 | -7 | c.842 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88159118 | CAAACACT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | 350 | 0.0257 | -7 | c.-75 others(16): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 480 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119159381 | GGGCAATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(168): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(43): Show | 171 | 388 | 0.4407 | -7 | c.143 others(24): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 12/14 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43820469 | TAATGTTA | T | intron_variant | MODIFIER | HG01975.hp1 NA18962.hp1 NA18977.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0002 | a0002c0002t0002g0027a0002c0002t0002g0196a0004c0004t0002g0266 | 4 | 330 | 0.0121 | -7 | c.146 others(24): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43828472 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01123.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0250a0001c0001t0001g0251others(5): Show | 9 | 330 | 0.0273 | -7 | c.502 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43849021 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01070.hp2 others(7): Show |
a0003a0005 | a0003c0002a0003c0014a0005c0006 | a0003c0002t0002a0003c0002t0028a0003c0014t0087others(2): Show | a0003c0002t0002g0264a0003c0002t0002g0282a0003c0002t0002g0287others(7): Show | 10 | 318 | 0.0315 | -7 | c.323 others(24): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43849283 | CTCAGAGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(95): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(9): Show | a0001c0001t0005a0001c0001t0060a0002c0003t0002others(43): Show | a0001c0001t0005g0002a0001c0001t0005g0054a0001c0001t0005g0123others(89): Show | 98 | 318 | 0.3082 | -7 | c.323 others(24): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(8): Show | a0001c0001t0001g0181a0001c0001t0001g0189a0001c0001t0001g0256others(40): Show | 45 | 376 | 0.1197 | -7 | c.487 others(22): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50897554 | TAAATAGG | T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG03098.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0006a0002c0004t0006 | a0002c0002t0006g0317a0002c0004t0006g0023a0002c0004t0006g0228 | 3 | 376 | 0.0080 | -7 | c.781 others(24): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25359439 | AAAAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(77): Show | 80 | 316 | 0.2532 | -7 | c.192 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71894087 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01261.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0044others(20): Show | 23 | 186 | 0.1237 | -7 | c.-4+ others(24): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0218a0001c0001t0002g0220a0001c0001t0002g0221others(53): Show | 56 | 344 | 0.1628 | -7 | c.-18 others(24): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27132803 | CTCTCCTT | C | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02809.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0044 | 4 | 400 | 0.0100 | -7 | c.*20 others(18): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1992 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133834 | ATTTTTTT | A | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0007 | a0001c0001t0001g0068a0001c0001t0001g0091a0001c0001t0001g0148others(5): Show | 8 | 234 | 0.0342 | -7 | c.194 others(26): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58237483 | CGGGGGCG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(150): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(144): Show | 153 | 302 | 0.5066 | -7 | c.-52 others(16): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 308 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289410 | CAAATAAT | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0001g0221others(13): Show | 18 | 386 | 0.0466 | -7 | c.*32 others(18): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2720 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA | C | intron_variant | MODIFIER | HG02074.hp2 HG02080.hp1 HG02083.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0227a0001c0001t0003g0165a0001c0001t0003g0321others(17): Show | 20 | 358 | 0.0559 | -7 | c.285 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26856433 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(47): Show | 50 | 358 | 0.1397 | -7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858537 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0004g0075a0001c0001t0004g0077a0001c0001t0004g0078others(24): Show | 27 | 358 | 0.0754 | -7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100819947 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG02647.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0027 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0137a0001c0001t0007g0134a0001c0001t0009g0224others(3): Show | 6 | 238 | 0.0252 | -7 | c.303 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 40/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | GTTTTTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01081.hp2 others(3): Show |
a0001a0003 | a0001c0013a0003c0003a0003c0050 | a0001c0013t0002a0001c0013t0005a0003c0003t0003others(1): Show | a0001c0013t0002g0116a0001c0013t0005g0114a0001c0013t0005g0118others(3): Show | 6 | 238 | 0.0252 | -7 | c.911 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179101996 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0144a0001c0001t0001g0146a0001c0001t0001g0149others(95): Show | 98 | 350 | 0.2800 | -7 | c.*57 others(18): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5715 | chr1 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179200038 | CCTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01346.hp2 others(23): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0008a0001c0001t0009a0001c0001t0090others(4): Show | a0001c0001t0008g0282a0001c0001t0008g0283a0001c0001t0008g0287others(23): Show | 26 | 350 | 0.0743 | -7 | c.157 others(26): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114580187 | AATATTAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01884.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0001t0026a0001c0001t0087others(4): Show | a0001c0001t0003g0064a0001c0001t0026g0130a0001c0001t0087g0019others(4): Show | 7 | 256 | 0.0273 | -7 | c.380 others(24): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8031336 | GACCCTGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0056a0001c0001t0001g0078a0001c0001t0001g0108others(32): Show | 35 | 322 | 0.1087 | -7 | c.104 others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 10/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8074089 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01943.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0041a0001c0001t0001g0061others(26): Show | 29 | 322 | 0.0901 | -7 | c.675 others(24): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8075249 | CAGAAAGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(254): Show | 257 | 322 | 0.7981 | -7 | c.675 others(24): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8089732 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0056others(34): Show | 37 | 322 | 0.1149 | -7 | c.339 others(24): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8108133 | ACAGAAGC | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 NA18984.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0087a0001c0001t0005g0009others(3): Show | 6 | 322 | 0.0186 | -7 | c.11- others(22): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149222661 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(90): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0045a0001c0001t0001g0054others(89): Show | 93 | 258 | 0.3605 | -7 | c.757 others(24): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |