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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215015274 | GAGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(106): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(194): Show | 197 | 198 | 0.9950 | -4 | c.195 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 15/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215039759 | AAAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01975.hp2 others(26): Show |
a0002a0009a0010 | a0002c0007a0002c0008a0002c0013others(8): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(16): Show | a0002c0007t0002g0105a0002c0007t0003g0017a0002c0007t0003g0069others(26): Show | 29 | 198 | 0.1465 | -4 | c.873 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064689 | ACACG | A | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 NA18522.hp2 |
a0003 | a0003c0014a0003c0020 | a0003c0014t0002a0003c0014t0006a0003c0020t0001 | a0003c0014t0002g0101a0003c0014t0006g0102a0003c0020t0001g0106 | 3 | 198 | 0.0152 | -4 | c.164 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACA | G | intron_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0002g0121a0001c0001t0002g0132a0001c0002t0001g0033others(6): Show | 9 | 198 | 0.0455 | -4 | c.164 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215065297 | TAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(36): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(15): Show | a0001c0001t0002g0025a0001c0001t0002g0059a0001c0001t0002g0150others(36): Show | 39 | 198 | 0.1970 | -4 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215071408 | ATAAT | A | intron_variant | MODIFIER | HG02559.hp1 NA20129.hp2 |
a0002 | a0002c0008 | a0002c0008t0004a0002c0008t0007 | a0002c0008t0004g0021a0002c0008t0007g0003 | 2 | 198 | 0.0101 | -4 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215095749 | ACCGG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113a0001c0010t0004g0114a0001c0022t0019g0014others(16): Show | 19 | 198 | 0.0960 | -4 | c.163 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215129946 | GGCTA | G | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0022others(3): Show | a0001c0005t0003a0001c0005t0005a0001c0010t0004others(4): Show | a0001c0005t0003g0077a0001c0005t0005g0075a0001c0010t0004g0113others(6): Show | 9 | 198 | 0.0455 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134597 | CTCTA | C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA20129.hp2 |
a0001a0002 | a0001c0022a0002c0008a0002c0056 | a0001c0022t0019a0002c0008t0004a0002c0056t0004 | a0001c0022t0019g0014a0002c0008t0004g0021a0002c0056t0004g0020 | 3 | 198 | 0.0152 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134616 | TAGAG | T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0005 | a0001c0010a0001c0022a0001c0044others(2): Show | a0001c0010t0004a0001c0022t0006a0001c0044t0004others(2): Show | a0001c0010t0004g0113a0001c0010t0004g0114a0001c0022t0006g0112others(4): Show | 7 | 198 | 0.0354 | -4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215142261 | CTTGT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02559.hp1 others(13): Show |
a0001a0002a0005 | a0001c0010a0001c0012a0001c0015others(7): Show | a0001c0010t0009a0001c0012t0014a0001c0015t0007others(8): Show | a0001c0010t0009g0001a0001c0012t0014g0015a0001c0015t0007g0009others(13): Show | 16 | 198 | 0.0808 | -4 | c.-40 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3636 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01433.hp2 others(12): Show |
a0001a0007a0008others(7): Show | a0001c0001a0001c0010a0001c0104others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0058a0001c0001t0002g0054a0001c0001t0004g0057others(12): Show | 15 | 178 | 0.0843 | -4 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48180921 | GAAAC | G | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 NA19030.hp1 |
a0007a0086 | a0007c0011a0007c0102a0086c0059 | a0007c0011t0003a0007c0102t0001a0086c0059t0003 | a0007c0011t0003g0130a0007c0102t0001g0020a0086c0059t0003g0172 | 3 | 178 | 0.0169 | -4 | c.69+ others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48203405 | AGTAG | A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0004a0007c0011t0007 | a0001c0001t0004g0164a0007c0011t0007g0165 | 2 | 178 | 0.0112 | -4 | c.287 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01975.hp1 HG01981.hp2 others(16): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0065others(14): Show | a0001c0001t0001a0001c0010t0001a0002c0065t0006others(15): Show | a0001c0001t0001g0027a0001c0010t0001g0066a0002c0065t0006g0128others(16): Show | 19 | 178 | 0.1067 | -4 | c.439 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48225109 | GTGCC | G | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01070.hp1 others(29): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0010a0001c0104others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0177a0001c0001t0002g0065a0001c0001t0002g0085others(29): Show | 32 | 178 | 0.1798 | -4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48225135 | GCCTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00741.hp2 others(25): Show |
a0001a0002a0003others(18): Show | a0001c0010a0002c0022a0003c0003others(21): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(21): Show | a0001c0010t0002g0074a0002c0022t0002g0124a0003c0003t0004g0028others(25): Show | 28 | 178 | 0.1573 | -4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48251705 | TTTTC | T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0015a0061a0062others(3): Show | a0015c0025a0015c0076a0061c0074others(4): Show | a0015c0025t0003a0015c0076t0001a0061c0074t0001others(4): Show | a0015c0025t0003g0024a0015c0025t0003g0025a0015c0076t0001g0021others(5): Show | 8 | 178 | 0.0449 | -4 | c.200 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48286486 | CCCTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
a0001a0002a0003others(52): Show | a0001c0001a0001c0010a0001c0103others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(86): Show | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0042others(119): Show | 122 | 178 | 0.6854 | -4 | c.883 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48290939 | GGAAA | G | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0015a0061a0062others(3): Show | a0015c0025a0015c0076a0061c0074others(4): Show | a0015c0025t0003a0015c0076t0001a0061c0074t0001others(4): Show | a0015c0025t0003g0024a0015c0025t0003g0025a0015c0076t0001g0021others(5): Show | 8 | 178 | 0.0449 | -4 | c.895 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | GCACA | G | intron_variant | MODIFIER | HG00741.hp2 HG01516.hp1 |
a0011a0012 | a0011c0046a0012c0045 | a0011c0046t0002a0012c0045t0002 | a0011c0046t0002g0089a0012c0045t0002g0075 | 2 | 178 | 0.0112 | -4 | c.932 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48313979 | GTGTA | G | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0007a0035 | a0007c0102a0035c0106 | a0007c0102t0001a0035c0106t0005 | a0007c0102t0001g0020a0035c0106t0005g0006 | 2 | 178 | 0.0112 | -4 | c.968 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330030 | TATCC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(64): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0010a0002c0002others(46): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0002others(54): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0177others(64): Show | 67 | 178 | 0.3764 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330485 | GTCCA | G | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp2 |
a0003a0087 | a0003c0004a0087c0039 | a0003c0004t0001a0087c0039t0001 | a0003c0004t0001g0033a0087c0039t0001g0003 | 2 | 178 | 0.0112 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATC | A | intron_variant | MODIFIER | HG02723.hp1 NA18979.hp2 |
a0004a0046 | a0004c0009a0046c0057 | a0004c0009t0001a0046c0057t0001 | a0004c0009t0001g0116a0046c0057t0001g0001 | 2 | 178 | 0.0112 | -4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
a0002a0005a0006others(16): Show | a0002c0022a0005c0005a0006c0007others(19): Show | a0002c0022t0002a0005c0005t0003a0006c0007t0003others(21): Show | a0002c0022t0002g0124a0005c0005t0003g0090a0005c0005t0003g0102others(27): Show | 30 | 178 | 0.1685 | -4 | c.108 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368776 | TACAC | T | intron_variant | MODIFIER | HG01123.hp2 HG02572.hp2 HG02809.hp2 others(5): Show |
a0015a0026a0049others(4): Show | a0015c0025a0026c0026a0049c0055others(4): Show | a0015c0025t0003a0026c0026t0001a0049c0055t0003others(4): Show | a0015c0025t0003g0024a0015c0025t0003g0025a0026c0026t0001g0053others(5): Show | 8 | 178 | 0.0449 | -4 | c.108 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48381370 | TACAC | T | intron_variant | MODIFIER | HG01433.hp1 HG03834.hp2 |
a0001a0075 | a0001c0001a0075c0081 | a0001c0001t0002a0075c0081t0001 | a0001c0001t0002g0054a0075c0081t0001g0148 | 2 | 178 | 0.0112 | -4 | c.113 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTT | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01123.hp2 others(25): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0104a0002c0002others(23): Show | a0001c0001t0004a0001c0104t0005a0002c0002t0004others(23): Show | a0001c0001t0004g0057a0001c0104t0005g0044a0002c0002t0004g0106others(25): Show | 28 | 178 | 0.1573 | -4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411165 | CTCTT | C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 NA18906.hp1 |
a0035a0036a0039 | a0035c0106a0036c0098a0039c0110 | a0035c0106t0005a0036c0098t0001a0039c0110t0007 | a0035c0106t0005g0006a0036c0098t0001g0069a0039c0110t0007g0126 | 3 | 178 | 0.0169 | -4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48425753 | ATTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0022others(19): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(19): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(26): Show | 29 | 178 | 0.1629 | -4 | c.124 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48435374 | ATTTG | A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG03098.hp1 |
a0035a0045a0070 | a0035c0106a0045c0056a0070c0064 | a0035c0106t0005a0045c0056t0002a0070c0064t0001 | a0035c0106t0005g0006a0045c0056t0002g0019a0070c0064t0001g0127 | 3 | 178 | 0.0169 | -4 | c.125 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48490594 | TTGAC | T | intron_variant | MODIFIER | HG02523.hp2 HG03654.hp1 HG04204.hp2 others(3): Show |
a0001a0008a0012others(2): Show | a0001c0001a0008c0013a0012c0016others(2): Show | a0001c0001t0001a0008c0013t0002a0012c0016t0001others(2): Show | a0001c0001t0001g0081a0008c0013t0002g0088a0012c0016t0001g0087others(3): Show | 6 | 178 | 0.0337 | -4 | c.132 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 48/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48512158 | AAGAC | A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 NA19043.hp2 |
a0005a0015 | a0005c0024a0015c0076 | a0005c0024t0001a0005c0024t0003a0015c0076t0001 | a0005c0024t0001g0018a0005c0024t0003g0107a0015c0076t0001g0021 | 3 | 178 | 0.0169 | -4 | c.136 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48524634 | CTGAT | C | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0004others(16): Show | a0001c0103a0002c0065a0004c0079others(16): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(18): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(20): Show | 23 | 178 | 0.1292 | -4 | c.142 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48525670 | CTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02572.hp2 others(10): Show |
a0022a0027a0029others(7): Show | a0022c0020a0027c0021a0029c0014others(7): Show | a0022c0020t0001a0022c0020t0005a0027c0021t0008others(9): Show | a0022c0020t0001g0007a0022c0020t0005g0123a0027c0021t0008g0056others(10): Show | 13 | 178 | 0.0730 | -4 | c.142 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48534195 | TTGTC | T | intron_variant | MODIFIER | HG02071.hp1 NA18961.hp1 NA18971.hp2 others(7): Show |
a0005a0006a0007others(3): Show | a0005c0005a0006c0023a0007c0011others(3): Show | a0005c0005t0003a0006c0023t0003a0007c0011t0003others(3): Show | a0005c0005t0003g0090a0005c0005t0003g0102a0005c0005t0003g0103others(7): Show | 10 | 178 | 0.0562 | -4 | c.143 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48558177 | TCCTC | T | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTG | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01074.hp2 others(21): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0010a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(17): Show | a0001c0001t0001g0027a0001c0001t0001g0064a0001c0001t0001g0133others(21): Show | 24 | 178 | 0.1348 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48565214 | CTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0022others(22): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(23): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(27): Show | 30 | 178 | 0.1685 | -4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48599100 | CAGTA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(100): Show |
a0001a0002a0003others(51): Show | a0001c0001a0001c0010a0002c0002others(66): Show | a0001c0001t0002a0001c0001t0004a0001c0010t0002others(73): Show | a0001c0001t0002g0054a0001c0001t0002g0065a0001c0001t0002g0085others(100): Show | 103 | 178 | 0.5787 | -4 | c.147 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48605172 | CTCTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03486.hp1 others(2): Show |
a0005a0015a0061others(2): Show | a0005c0024a0015c0076a0061c0074others(2): Show | a0005c0024t0001a0015c0076t0001a0061c0074t0001others(2): Show | a0005c0024t0001g0018a0015c0076t0001g0021a0061c0074t0001g0022others(2): Show | 5 | 178 | 0.0281 | -4 | c.147 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGT | A | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01975.hp1 others(22): Show |
a0001a0002a0004others(18): Show | a0001c0103a0002c0065a0004c0008others(19): Show | a0001c0103t0006a0002c0065t0006a0004c0008t0005others(19): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0008t0005g0169others(22): Show | 25 | 178 | 0.1405 | -4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAG | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01952.hp2 others(19): Show |
a0001a0005a0017others(15): Show | a0001c0001a0001c0010a0005c0024others(16): Show | a0001c0001t0001a0001c0010t0001a0005c0024t0003others(16): Show | a0001c0001t0001g0040a0001c0001t0001g0081a0001c0001t0001g0133others(19): Show | 22 | 178 | 0.1236 | -4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0035others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0077others(150): Show | 153 | 318 | 0.4811 | -4 | c.427 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATAT | C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
a0002a0004a0005others(4): Show | a0002c0017a0002c0025a0002c0074others(17): Show | a0002c0017t0002a0002c0017t0015a0002c0017t0026others(21): Show | a0002c0017t0002g0271a0002c0017t0015g0101a0002c0017t0026g0163others(23): Show | 26 | 318 | 0.0818 | -4 | c.417 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104824239 | CAAAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(35): Show |
a0002a0003a0012 | a0002c0011a0002c0037a0002c0059others(5): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(19): Show | a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119others(35): Show | 38 | 318 | 0.1195 | -4 | c.265 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 18/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0108a0001c0109others(13): Show | a0001c0001t0001a0001c0001t0039a0001c0108t0002others(21): Show | a0001c0001t0001g0088a0001c0001t0039g0246a0001c0108t0002g0113others(30): Show | 33 | 318 | 0.1038 | -4 | c.189 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104839660 | CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
a0001a0002a0003others(23): Show | a0001c0092a0001c0108a0001c0109others(60): Show | a0001c0092t0012a0001c0108t0002a0001c0109t0001others(113): Show | a0001c0092t0012g0220a0001c0108t0002g0113a0001c0109t0001g0232others(159): Show | 162 | 318 | 0.5094 | -4 | c.105 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104846808 | CAGAT | C | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02559.hp2 others(7): Show |
a0002a0008a0011 | a0002c0011a0002c0017a0002c0059others(3): Show | a0002c0011t0004a0002c0017t0002a0002c0059t0001others(3): Show | a0002c0011t0004g0112a0002c0017t0002g0271a0002c0059t0001g0235others(7): Show | 10 | 318 | 0.0315 | -4 | c.721 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar |