view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48538040 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48539260 | T | TA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48541905 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48542697 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48544538 | A | AG | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48545752 | G | GA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48547828 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48548548 | A | AT | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02258.hp1 others(14): Show |
a0002a0004a0019others(11): Show | a0002c0065a0004c0079a0019c0034others(11): Show | a0002c0065t0006a0004c0079t0006a0019c0034t0003others(13): Show | a0002c0065t0006g0128 a0004c0079t0006g0147 a0019c0034t0003g0116 others(14): Show |
17 | 139 | 0.1223 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48549642 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48552593 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(28): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0022others(22): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(23): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(28): Show |
31 | 176 | 0.1761 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48558643 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48561831 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(34): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(29): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(34): Show |
37 | 176 | 0.2102 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48562551 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 1 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48564505 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(23): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(18): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(23): Show |
26 | 176 | 0.1477 | 1 | c.143 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48570319 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01981.hp1 others(12): Show |
a0001a0002a0007others(10): Show | a0001c0001a0001c0010a0002c0002others(11): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(11): Show | a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0010t0001g0054 others(12): Show |
15 | 105 | 0.1429 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48571484 | C | CT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0004others(15): Show | a0001c0103a0002c0065a0004c0079others(15): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(16): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(18): Show |
21 | 175 | 0.1200 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48575059 | A | AT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(25): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0010a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0133 others(25): Show |
28 | 140 | 0.2000 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48579211 | G | GA | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001a0002a0004others(5): Show | a0001c0103a0002c0065a0004c0079others(5): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(5): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(5): Show |
8 | 176 | 0.0455 | 1 | c.143 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48584738 | G | GT | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(9): Show |
a0001a0003a0008others(5): Show | a0001c0001a0003c0003a0008c0013others(5): Show | a0001c0001t0001a0003c0003t0004a0008c0013t0002others(5): Show | a0001c0001t0001g0082 a0003c0003t0004g0028 a0003c0003t0004g0029 others(9): Show |
12 | 176 | 0.0682 | 1 | c.145 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 56/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48593727 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp1 others(24): Show |
a0004a0006a0007others(19): Show | a0004c0008a0006c0024a0007c0011others(20): Show | a0004c0008t0005a0006c0024t0001a0007c0011t0007others(22): Show | a0004c0008t0005g0168 a0006c0024t0001g0019 a0007c0011t0007g0165 others(24): Show |
27 | 175 | 0.1543 | 1 | c.146 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48599371 | G | GT | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02258.hp1 others(16): Show |
a0001a0004a0008others(13): Show | a0001c0104a0004c0008a0008c0013others(13): Show | a0001c0104t0005a0004c0008t0005a0008c0013t0005others(15): Show | a0001c0104t0005g0044 a0004c0008t0005g0168 a0008c0013t0005g0045 others(16): Show |
19 | 176 | 0.1080 | 1 | c.147 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48600349 | G | GT | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02886.hp1 others(5): Show |
a0006a0007a0014others(5): Show | a0006c0024a0007c0011a0014c0076others(5): Show | a0006c0024t0001a0007c0011t0007a0014c0076t0001others(5): Show | a0006c0024t0001g0019 a0007c0011t0007g0165 a0014c0076t0001g0021 others(5): Show |
8 | 176 | 0.0455 | 1 | c.147 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48602740 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0002a0004a0006others(9): Show | a0002c0002a0002c0065a0004c0079others(10): Show | a0002c0002t0004a0002c0065t0006a0004c0079t0006others(10): Show | a0002c0002t0004g0142 a0002c0065t0006g0128 a0004c0079t0006g0147 others(10): Show |
13 | 176 | 0.0739 | 1 | c.147 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48615600 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(99): Show |
a0001a0002a0003others(55): Show | a0001c0001a0001c0103a0001c0104others(68): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(76): Show | a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0177 others(99): Show |
102 | 176 | 0.5795 | 1 | c.148 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48616078 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(95): Show |
a0001a0002a0003others(54): Show | a0001c0001a0001c0103a0001c0104others(67): Show | a0001c0001t0004a0001c0001t0006a0001c0103t0006others(74): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0001c0001t0006g0178 others(95): Show |
98 | 176 | 0.5568 | 1 | c.148 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48620187 | G | GA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(99): Show |
a0001a0002a0003others(57): Show | a0001c0001a0001c0103a0001c0104others(70): Show | a0001c0001t0004a0001c0001t0006a0001c0103t0006others(78): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0001c0001t0006g0178 others(99): Show |
102 | 176 | 0.5795 | 1 | c.148 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48620247 | A | AC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(131): Show |
a0001a0002a0003others(68): Show | a0001c0001a0001c0010a0001c0103others(89): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(103): Show | a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0085 others(131): Show |
134 | 176 | 0.7614 | 1 | c.148 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48626508 | T | TA | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0046a0069others(2): Show | a0007c0011a0046c0067a0069c0086others(2): Show | a0007c0011t0007a0046c0067t0009a0069c0086t0009others(2): Show | a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show |
5 | 176 | 0.0284 | 1 | c.148 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48629575 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp1 others(39): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0002a0002c0022others(28): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0177 others(39): Show |
42 | 99 | 0.4242 | 1 | c.148 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48630817 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(108): Show |
a0001a0002a0003others(54): Show | a0001c0001a0001c0010a0001c0103others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(84): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(108): Show |
111 | 165 | 0.6727 | 1 | c.148 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633714 | T | TA | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG01243.hp1 others(53): Show |
a0001a0002a0004others(34): Show | a0001c0104a0002c0002a0004c0008others(39): Show | a0001c0104t0005a0002c0002t0004a0004c0008t0005others(42): Show | a0001c0104t0005g0044 a0002c0002t0004g0142 a0004c0008t0005g0168 others(53): Show |
56 | 166 | 0.3373 | 1 | c.148 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01192.hp2 others(8): Show |
a0001a0003a0004others(8): Show | a0001c0010a0003c0004a0004c0009others(8): Show | a0001c0010t0002a0003c0004t0002a0004c0009t0002others(8): Show | a0001c0010t0002g0075 a0003c0004t0002g0035 a0004c0009t0002g0151 others(8): Show |
11 | 63 | 0.1746 | 1 | c.148 others(11): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48644589 | C | CT | splice_region_variant others(1): Show |
LOW | HG01433.hp2 HG02572.hp2 HG02615.hp1 others(13): Show |
a0001a0004a0008others(12): Show | a0001c0104a0004c0008a0008c0013others(12): Show | a0001c0104t0005a0004c0008t0005a0008c0013t0005others(12): Show | a0001c0104t0005g0044 a0004c0008t0005g0168 a0008c0013t0005g0045 others(13): Show |
16 | 86 | 0.1860 | 1 | c.149 others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 60/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48646528 | T | TA | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0046a0069others(2): Show | a0007c0011a0046c0067a0069c0086others(2): Show | a0007c0011t0007a0046c0067t0009a0069c0086t0009others(2): Show | a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show |
5 | 176 | 0.0284 | 1 | c.*10 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 62/62 | 1017 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48652195 | G | GA | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01192.hp1 others(31): Show |
a0005a0006a0007others(16): Show | a0005c0007a0005c0023a0006c0005others(20): Show | a0005c0007t0003a0005c0023t0003a0006c0005t0003others(20): Show | a0005c0007t0003g0121 a0005c0007t0003g0137 a0005c0023t0003g0138 others(31): Show |
34 | 176 | 0.1932 | 1 | c.*66 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4699 | chr7 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104776396 | T | TC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(245): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0035others(96): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(156): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 others(244): Show |
248 | 316 | 0.7848 | 1 | c.*79 others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4609 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104777814 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(167): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0005a0001c0108others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0293 a0001c0001t0002g0075 a0001c0001t0002g0139 others(166): Show |
170 | 316 | 0.5380 | 1 | c.*65 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3191 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104779621 | G | GT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0035others(26): Show | a0001c0001t0001a0001c0001t0039a0001c0005t0001others(30): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 others(44): Show |
47 | 125 | 0.3760 | 1 | c.*46 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1384 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104782848 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG01891.hp1 HG02145.hp1 others(19): Show |
a0003a0004a0005others(7): Show | a0003c0038a0003c0077a0004c0029others(13): Show | a0003c0038t0005a0003c0077t0005a0004c0029t0005others(13): Show | a0003c0038t0005g0306 a0003c0077t0005g0311 a0004c0029t0005g0024 others(19): Show |
22 | 163 | 0.1350 | 1 | c.*14 others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 1466 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104790096 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(92): Show |
a0001a0002a0003others(11): Show | a0001c0005a0002c0011a0002c0017others(36): Show | a0001c0005t0004a0002c0011t0004a0002c0011t0007others(69): Show | a0001c0005t0004g0142 a0002c0011t0004g0113 a0002c0011t0004g0177 others(92): Show |
95 | 293 | 0.3242 | 1 | c.592 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 44/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104794512 | T | TA | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(77): Show |
a0002a0004a0005others(14): Show | a0002c0011a0002c0024a0002c0032others(40): Show | a0002c0011t0004a0002c0024t0008a0002c0032t0001others(58): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0024t0008g0004 others(77): Show |
80 | 102 | 0.7843 | 1 | c.538 others(7): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104797574 | C | CG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(85): Show |
a0001a0003a0006others(8): Show | a0001c0001a0001c0035a0001c0092others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 others(85): Show |
88 | 316 | 0.2785 | 1 | c.512 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 37/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104801552 | G | GT | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(5): Show |
a0002a0004 | a0002c0024a0002c0032a0004c0042others(1): Show | a0002c0024t0008a0002c0032t0001a0004c0042t0008others(1): Show | a0002c0024t0008g0004 a0002c0024t0008g0009 a0002c0024t0008g0110 others(5): Show |
8 | 316 | 0.0253 | 1 | c.469 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 34/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104803609 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(31): Show |
a0002a0004a0006others(14): Show | a0002c0057a0002c0078a0002c0085others(20): Show | a0002c0057t0001a0002c0078t0001a0002c0085t0008others(23): Show | a0002c0057t0001g0151 a0002c0078t0001g0271 a0002c0085t0008g0145 others(31): Show |
34 | 316 | 0.1076 | 1 | c.456 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 32/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104804234 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(37): Show |
a0002a0004a0005others(5): Show | a0002c0011a0002c0037a0004c0008others(15): Show | a0002c0011t0004a0002c0011t0020a0002c0037t0011others(29): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0020g0226 others(37): Show |
40 | 316 | 0.1266 | 1 | c.455 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 32/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104808122 | A | AT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02257.hp2 others(6): Show |
a0002a0004a0005others(1): Show | a0002c0017a0002c0074a0004c0107others(3): Show | a0002c0017t0002a0002c0017t0015a0002c0017t0026others(5): Show | a0002c0017t0002g0185 a0002c0017t0015g0104 a0002c0017t0026g0190 others(6): Show |
9 | 316 | 0.0285 | 1 | c.427 others(10): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104820763 | C | CG | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(78): Show |
a0002a0003a0006others(10): Show | a0002c0011a0002c0015a0002c0017others(29): Show | a0002c0011t0004a0002c0015t0013a0002c0015t0031others(58): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0015t0013g0001 others(77): Show |
81 | 316 | 0.2563 | 1 | c.296 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 20/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104823064 | G | GA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(77): Show |
a0002a0003a0005others(10): Show | a0002c0015a0002c0017a0002c0025others(27): Show | a0002c0015t0013a0002c0017t0015a0002c0017t0026others(61): Show | a0002c0015t0013g0001 a0002c0017t0015g0104 a0002c0017t0026g0190 others(76): Show |
80 | 311 | 0.2572 | 1 | c.265 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 18/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104831149 | T | TA | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01168.hp1 others(32): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0011others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0005t0002others(25): Show | a0001c0001t0003g0090 a0001c0001t0006g0051 a0001c0005t0002g0123 others(32): Show |
35 | 128 | 0.2734 | 1 | c.171 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104831221 | C | CT | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG02572.hp2 others(7): Show |
a0005a0009a0011others(3): Show | a0005c0016a0009c0021a0011c0041others(6): Show | a0005c0016t0011a0009c0021t0001a0011c0041t0001others(7): Show | a0005c0016t0011g0076 a0009c0021t0001g0244 a0011c0041t0001g0188 others(7): Show |
10 | 316 | 0.0316 | 1 | c.171 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/49 | chr9 | TogoVar |