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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9108099 | GTTTATTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(130): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(109): Show | 133 | 332 | 0.4006 | -15 | c.759 others(30): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33310306 | AGGGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0091a0001c0001t0000g0108a0001c0001t0000g0257 | 3 | 418 | 0.0072 | -15 | c.335 others(32): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33310345 | GAGACCAG others(8): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0000 | a0001c0006t0000g0050 | 1 | 418 | 0.0024 | -15 | c.335 others(32): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67196177 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp1 NA18991.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0232a0001c0001t0005g0233a0001c0001t0005g0234others(1): Show | 4 | 380 | 0.0105 | -15 | c.*66 others(26): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4489 | chr15 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTATTATT others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0014a0001c0001t0001g0034a0001c0001t0001g0172others(7): Show | 13 | 298 | 0.0436 | -15 | c.-49 others(32): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36258834 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 298 | 0.0034 | -15 | c.*30 others(26): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1902 | chr20 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262967 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0320 | 1 | 362 | 0.0028 | -15 | c.149 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44305839 | AGGGGAGA others(8): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 396 | 0.0025 | -15 | c.130 others(30): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 9/21 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0150 | 1 | 324 | 0.0031 | -15 | c.-15 others(26): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106078382 | GATTGAAG others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 404 | 0.0025 | -15 | c.183 others(30): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDH_chr4_56333290_56392491 | 56374367 | CAGAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | -15 | c.669 others(32): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02083.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0002g0011others(2): Show | 5 | 245 | 0.0204 | -15 | c.832 others(34): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69146044 | TATATACA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 348 | 0.0029 | -15 | c.*27 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1962 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146114 | CATGGAAT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 NA18522.hp2 NA18906.hp2 |
a0005a0006 | a0005c0005a0006c0016 | a0005c0005t0004a0006c0016t0004 | a0005c0005t0004g0214a0005c0005t0004g0219a0006c0016t0004g0186 | 3 | 348 | 0.0086 | -15 | c.*26 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1892 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146164 | AATATATA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03130.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0004 | a0001c0001t0002g0040a0001c0001t0002g0162a0001c0001t0002g0163others(2): Show | 5 | 348 | 0.0144 | -15 | c.*26 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1842 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146296 | CGGAATAT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224a0001c0001t0006g0225 | 2 | 348 | 0.0058 | -15 | c.*25 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1710 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215016582 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02622.hp2 others(4): Show |
a0002a0004a0008others(1): Show | a0002c0017a0004c0018a0004c0059others(3): Show | a0002c0017t0009a0004c0018t0021a0004c0059t0004others(3): Show | a0002c0017t0009g0007a0004c0018t0021g0082a0004c0059t0004g0071others(4): Show | 7 | 198 | 0.0354 | -15 | c.178 others(32): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215071196 | CAAATAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01106.hp1 others(27): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0001t0012g0192a0001c0003t0001g0032a0001c0003t0001g0034others(27): Show | 30 | 198 | 0.1515 | -15 | c.164 others(32): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 HG03540.hp2 others(1): Show |
a0002a0005a0063others(1): Show | a0002c0002a0005c0024a0063c0071others(1): Show | a0002c0002t0004a0005c0024t0003a0063c0071t0005others(1): Show | a0002c0002t0004g0106a0005c0024t0003g0107a0063c0071t0005g0105others(1): Show | 4 | 178 | 0.0225 | -15 | c.69+ others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104862691 | GGCCGGGC others(8): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0015 | a0015c0061 | a0015c0061t0001 | a0015c0061t0001g0080 | 1 | 318 | 0.0031 | -15 | c.422 others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 318 | 0.0031 | -15 | c.66+ others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104908167 | GACACTGG others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(10): Show |
a0002a0004a0005others(1): Show | a0002c0017a0002c0024a0002c0025others(8): Show | a0002c0017t0015a0002c0024t0008a0002c0025t0007others(8): Show | a0002c0017t0015g0101a0002c0024t0008g0003a0002c0024t0008g0008others(10): Show | 13 | 318 | 0.0409 | -15 | c.-92 others(32): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94027519 | TCCTTCTT others(8): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 306 | 0.0033 | -15 | c.453 others(34): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94061566 | GAAGCATA others(8): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0081 | a0001c0081t0002 | a0001c0081t0002g0153 | 1 | 306 | 0.0033 | -15 | c.193 others(32): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 13/49 | chr1 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146044 | TATATACA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 326 | 0.0031 | -15 | c.-43 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4150 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146114 | CATGGAAT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 | 1 | 326 | 0.0031 | -15 | c.-44 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4220 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146164 | AATATATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03130.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228a0002c0002t0002g0244a0002c0002t0002g0245others(1): Show | 4 | 326 | 0.0123 | -15 | c.-44 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4270 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146296 | CGGAATAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 NA19030.hp1 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0258a0006c0010t0001g0260 | 2 | 326 | 0.0061 | -15 | c.-46 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4402 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1050782 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
a0003a0005a0006others(5): Show | a0003c0005a0005c0022a0006c0020others(5): Show | a0003c0005t0002a0005c0022t0001a0006c0020t0002others(5): Show | a0003c0005t0002g0002a0003c0005t0002g0003a0005c0022t0001g0004others(6): Show | 9 | 30 | 0.3000 | -15 | c.255 others(32): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA8_chr17_68862289_68960392 | 68887897 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0240 | 1 | 274 | 0.0037 | -15 | c.314 others(32): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02717.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0024 | a0001c0001a0001c0005a0002c0022others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0022t0001others(1): Show | a0001c0001t0001g0211a0001c0005t0001g0137a0001c0005t0001g0141others(2): Show | 5 | 274 | 0.0183 | -15 | c.150 others(30): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229535038 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 284 | 0.0035 | -15 | c.134 others(34): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169007239 | TAATCAAT others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18747.hp2 NA18942.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0029others(3): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0002c0003t0001g0002others(6): Show | 10 | 306 | 0.0327 | -15 | c.389 others(32): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87583710 | AGTTTACT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18948.hp1 NA18952.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0003a0001c0005t0005a0003c0004t0002others(1): Show | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0005t0005g0021others(12): Show | 15 | 352 | 0.0426 | -15 | c.286 others(32): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 4/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87472921 | GAAAGATA others(8): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA19009.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098a0001c0002t0001g0099 | 2 | 290 | 0.0069 | -15 | c.81- others(28): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 2/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20624872 | CCTTTGCC others(8): Show |
C | intron_variant | MODIFIER | NA18946.hp1 NA18955.hp2 NA18974.hp2 others(5): Show |
a0002a0003 | a0002c0003a0003c0002a0003c0010 | a0002c0003t0001a0003c0002t0001a0003c0010t0001others(1): Show | a0002c0003t0001g0349a0003c0002t0001g0192a0003c0002t0001g0194others(5): Show | 8 | 360 | 0.0222 | -15 | c.53+ others(30): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20681100 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01255.hp2 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0005a0002c0035others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142others(10): Show | 13 | 360 | 0.0361 | -15 | c.170 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | chr7 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16044264 | GGTGGCTC others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02717.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0001a0001c0001t0004a0001c0033t0015 | a0001c0001t0001g0084a0001c0001t0004g0118a0001c0033t0015g0098 | 3 | 249 | 0.0121 | -15 | c.810 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03834.hp2 NA18971.hp1 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0001a0001c0013t0002 | a0001c0003t0001g0189a0001c0013t0002g0191 | 2 | 249 | 0.0080 | -15 | c.147 others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02280.hp1 HG03017.hp2 others(1): Show |
a0001a0005 | a0001c0003a0001c0022a0005c0008 | a0001c0003t0001a0001c0022t0001a0005c0008t0001 | a0001c0003t0001g0204a0001c0003t0001g0321a0001c0022t0001g0122others(1): Show | 4 | 342 | 0.0117 | -15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673988 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0006 | 1 | 342 | 0.0029 | -15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95058583 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp2 others(6): Show |
a0001a0002 | a0001c0010a0001c0013a0001c0024others(2): Show | a0001c0010t0001a0001c0013t0001a0001c0013t0004others(5): Show | a0001c0010t0001g0150a0001c0013t0001g0037a0001c0013t0004g0012others(6): Show | 9 | 248 | 0.0363 | -15 | c.336 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95109002 | CTATACTA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0037 | 1 | 248 | 0.0040 | -15 | c.253 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95226140 | CAATTACT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(81): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0064others(169): Show | 172 | 248 | 0.6936 | -15 | c.531 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95301592 | TGACGCGG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0047 | a0001c0047t0006 | a0001c0047t0006g0120 | 1 | 248 | 0.0040 | -15 | c.-29 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 142 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16219059 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0027 | a0027c0073 | a0027c0073t0001 | a0027c0073t0001g0016 | 1 | 357 | 0.0028 | -15 | c.474 others(30): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG01516.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0007 | a0001c0001t0001a0001c0010t0001a0002c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(26): Show | 30 | 212 | 0.1415 | -15 | c.389 others(32): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39622979 | AAGGATTC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0249 | 2 | 340 | 0.0059 | -15 | c.-33 others(26): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 3177 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18947.hp2 NA18985.hp1 NA18997.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0055others(7): Show | 10 | 362 | 0.0276 | -15 | c.628 others(32): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCE1_chr4_145093311_145134524 | 145098735 | AAACCTGC others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0032a0001c0001t0001g0033others(1): Show | 8 | 260 | 0.0308 | -15 | c.-28 others(30): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |