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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS12_chr4_122727704_122749939 | 122733859 | CTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG01361.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0007t0005a0001c0007t0008others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0001g0089others(20): Show | 41 | 364 | 0.1126 | -2 | c.-11 others(17): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BBS12_chr4_122727704_122749939 | 122749404 | TTA | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(153): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0026a0002c0012others(9): Show | a0001c0001t0001a0001c0026t0001a0002c0012t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(44): Show | 156 | 364 | 0.4286 | -2 | c.*53 others(13): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 4466 | chr4 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66507687 | GTT | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0003a0002c0005t0003others(1): Show | a0001c0001t0001g0039a0001c0002t0003g0097a0002c0005t0003g0047others(7): Show | 11 | 386 | 0.0285 | -2 | c.-29 others(13): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 2947 | chr11 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66516122 | CTT | C | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01884.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(2): Show | a0001c0001t0002g0045a0001c0002t0003g0027a0001c0003t0003g0005others(18): Show | 27 | 386 | 0.0700 | -2 | c.591 others(17): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBS1_chr11_66505635_66538598 | 66524892 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0164 | 5 | 386 | 0.0130 | -2 | c.111 others(21): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBS1_chr11_66505635_66538598 | 66525416 | ATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001a0005a0008 | a0001c0002a0001c0003a0005c0010others(1): Show | a0001c0002t0003a0001c0003t0003a0005c0010t0003others(1): Show | a0001c0002t0003g0004a0001c0002t0003g0010a0001c0002t0003g0011others(73): Show | 102 | 386 | 0.2643 | -2 | c.111 others(19): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66534443 | CAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(78): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0017a0001c0002t0003others(3): Show | a0001c0001t0002g0008a0001c0001t0017g0120a0001c0002t0003g0004others(59): Show | 81 | 386 | 0.2098 | -2 | c.*24 others(13): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 846 | chr11 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56484006 | ATT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0006t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(195): Show | 274 | 398 | 0.6884 | -2 | c.*75 others(11): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 378 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56490128 | GCA | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0002a0002c0010others(4): Show | a0001c0007t0003a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0007t0003g0279a0002c0002t0001g0003a0002c0002t0001g0006others(112): Show | 153 | 398 | 0.3844 | -2 | c.191 others(21): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56495766 | ATG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(94): Show | 143 | 398 | 0.3593 | -2 | c.191 others(21): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56505555 | ATG | A | intron_variant | MODIFIER | HG00673.hp2 HG01978.hp1 HG02083.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011a0002c0002t0002g0020a0002c0002t0002g0041others(19): Show | 25 | 398 | 0.0628 | -2 | c.804 others(17): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72683898 | CTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(65): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0312a0001c0001t0001g0313others(64): Show | 68 | 398 | 0.1709 | -2 | c.-23 others(13): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2308 | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72691958 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(92): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0010others(2): Show | a0001c0001t0001a0002c0002t0001a0006c0010t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0025others(92): Show | 95 | 398 | 0.2387 | -2 | c.25- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72692304 | ATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0037a0001c0001t0001g0039others(83): Show | 87 | 398 | 0.2186 | -2 | c.25- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72702552 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(106): Show |
a0001a0006a0008others(1): Show | a0001c0001a0006c0010a0008c0012others(1): Show | a0001c0001t0001a0006c0010t0001a0008c0012t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(106): Show | 109 | 398 | 0.2739 | -2 | c.77- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72704855 | TTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(106): Show |
a0001a0006a0008others(1): Show | a0001c0001a0006c0010a0008c0012others(1): Show | a0001c0001t0001a0006c0010t0001a0008c0012t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(106): Show | 109 | 398 | 0.2739 | -2 | c.77- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72705587 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(104): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0007a0006c0010others(2): Show | a0001c0001t0001a0001c0007t0001a0006c0010t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(104): Show | 107 | 398 | 0.2688 | -2 | c.77- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72707970 | ATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(67): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0312a0001c0001t0001g0313others(66): Show | 70 | 398 | 0.1759 | -2 | c.77- others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72709539 | CTA | C | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp1 HG03453.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0003c0005t0003 | a0001c0001t0003g0352a0001c0001t0003g0356a0003c0005t0003g0350others(2): Show | 5 | 398 | 0.0126 | -2 | c.77- others(15): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72713314 | GAC | G | intron_variant | MODIFIER | HG01070.hp2 HG01346.hp2 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0043a0001c0001t0001g0044others(3): Show | 6 | 398 | 0.0151 | -2 | c.220 others(19): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72716073 | CTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01070.hp2 others(13): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0037a0001c0001t0001g0039others(13): Show | 16 | 398 | 0.0402 | -2 | c.332 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72719763 | TTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(126): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0292others(125): Show | 129 | 398 | 0.3241 | -2 | c.405 others(19): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72720486 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(219): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(217): Show | 222 | 398 | 0.5578 | -2 | c.406 others(19): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72723843 | CAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | 398 | 0.0126 | -2 | c.460 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 7/15 | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725038 | CTA | C | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG03139.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0001 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0049others(6): Show | 9 | 398 | 0.0226 | -2 | c.587 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72729161 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(100): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0007a0006c0010others(2): Show | a0001c0001t0001a0001c0007t0001a0006c0010t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0025others(100): Show | 103 | 398 | 0.2588 | -2 | c.643 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72729247 | GTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01168.hp2 HG01361.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0046a0001c0001t0001g0072a0001c0001t0001g0127others(17): Show | 20 | 398 | 0.0503 | -2 | c.643 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72731065 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0022others(69): Show | 73 | 398 | 0.1834 | -2 | c.712 others(17): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72736238 | CTT | C | intron_variant | MODIFIER | HG01361.hp1 HG02258.hp1 HG02630.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0028others(13): Show | 16 | 398 | 0.0402 | -2 | c.124 others(19): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72743425 | GAA | G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358a0001c0001t0001g0367a0001c0001t0001g0368others(3): Show | 6 | 398 | 0.0151 | -2 | c.*58 others(13): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4953 | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169476189 | CTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(63): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0064a0001c0001t0001g0067a0001c0001t0001g0140others(50): Show | 66 | 398 | 0.1658 | -2 | c.-33 others(13): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 3304 | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169480670 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00621.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0067a0001c0001t0001g0203others(24): Show | 31 | 398 | 0.0779 | -2 | c.59+ others(17): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169489453 | ACT | A | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0020 | 3 | 398 | 0.0075 | -2 | c.386 others(19): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169489898 | CAG | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0047 | a0001c0001t0003g0028a0001c0001t0003g0029a0001c0001t0003g0057others(4): Show | 9 | 398 | 0.0226 | -2 | c.386 others(19): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121832009 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(28): Show | 44 | 374 | 0.1177 | -2 | c.167 others(21): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121855962 | GTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0012others(66): Show | 91 | 374 | 0.2433 | -2 | c.529 others(17): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121858369 | AGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0011others(210): Show | 291 | 374 | 0.7781 | -2 | c.528 others(17): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121868684 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0017others(77): Show | 122 | 374 | 0.3262 | -2 | c.37- others(15): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33134215 | ATT | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp2 others(9): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0011others(4): Show | a0001c0001t0001a0002c0002t0002a0005c0011t0001others(6): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(9): Show | 12 | 268 | 0.0448 | -2 | c.-12 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33137705 | CTA | C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02723.hp2 others(1): Show |
a0002a0006a0009 | a0002c0002a0006c0005a0009c0008 | a0002c0002t0002a0006c0005t0007a0009c0008t0001others(1): Show | a0002c0002t0002g0123a0006c0005t0007g0128a0009c0008t0001g0122others(1): Show | 4 | 268 | 0.0149 | -2 | c.-12 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33138196 | TGG | T | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(27): Show | 30 | 268 | 0.1119 | -2 | c.-11 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33138554 | ACT | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(33): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0020others(33): Show | 36 | 268 | 0.1343 | -2 | c.-11 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33180361 | ATT | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(38): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0024 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0220a0001c0001t0003g0009a0001c0001t0003g0010others(38): Show | 41 | 268 | 0.1530 | -2 | c.442 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33184097 | CAG | C | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0012 | a0001c0001t0008g0209a0001c0001t0008g0210a0001c0001t0008g0232others(6): Show | 9 | 268 | 0.0336 | -2 | c.442 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33188080 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0135others(43): Show | 46 | 268 | 0.1716 | -2 | c.442 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33193421 | CCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(88): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0013a0001c0020others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(88): Show | 91 | 268 | 0.3396 | -2 | c.442 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33203996 | TAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195a0002c0002t0001g0196a0002c0002t0001g0197 | 3 | 268 | 0.0112 | -2 | c.442 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33221908 | TAC | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(33): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0020others(33): Show | 36 | 268 | 0.1343 | -2 | c.443 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33229356 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(182): Show | 185 | 268 | 0.6903 | -2 | c.443 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33235025 | ATT | A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
a0005 | a0005c0011a0005c0012 | a0005c0011t0001a0005c0012t0007a0005c0012t0015 | a0005c0011t0001g0236a0005c0011t0001g0238a0005c0012t0007g0235others(1): Show | 4 | 268 | 0.0149 | -2 | c.443 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |