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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBOX1_chr11_27035815_27132809 | 27057064 | T | TAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(151): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(140): Show | 154 | 318 | 0.4843 | 6 | c.220 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27085555 | A | ATCTCTC | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01261.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0013a0001c0001t0001g0055a0001c0001t0001g0065others(12): Show | 17 | 318 | 0.0535 | 6 | c.335 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01069.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0026a0002c0002others(1): Show | a0001c0001t0001a0001c0026t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0069a0001c0026t0001g0070others(4): Show | 16 | 364 | 0.0440 | 6 | c.-11 others(21): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BBS2_chr16_56479385_56525024 | 56516993 | T | TTTATTA | intron_variant | MODIFIER | HG00544.hp1 HG02622.hp2 HG03098.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0001g0198a0001c0001t0001g0199others(7): Show | 10 | 398 | 0.0251 | 6 | c.118 others(23): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(108): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0171a0001c0001t0001g0312a0001c0001t0001g0313others(107): Show | 111 | 398 | 0.2789 | 6 | c.24+ others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72689720 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(382): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(379): Show | 385 | 398 | 0.9673 | 6 | c.24+ others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01099.hp2 others(37): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0292a0001c0001t0001g0293others(37): Show | 40 | 398 | 0.1005 | 6 | c.77- others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72713314 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0315a0001c0001t0001g0367a0001c0001t0001g0368others(73): Show | 77 | 398 | 0.1935 | 6 | c.220 others(23): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725038 | C | CTATATA | intron_variant | MODIFIER | HG01123.hp1 HG02080.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273a0001c0001t0002g0318a0001c0001t0002g0326 | 3 | 398 | 0.0075 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725055 | T | TAGAGAG | intron_variant | MODIFIER | HG03130.hp2 NA18906.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212a0002c0002t0001g0220a0002c0002t0001g0251 | 3 | 398 | 0.0075 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725057 | T | TAGAGAG | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0002g0270a0002c0002t0001g0197a0002c0002t0001g0198others(11): Show | 14 | 398 | 0.0352 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725057 | T | TATAGAG | intron_variant | MODIFIER | HG02071.hp1 HG03710.hp2 HG04199.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0179a0002c0002t0001g0224a0002c0002t0001g0232others(1): Show | 4 | 398 | 0.0101 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121832009 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0017others(53): Show | 82 | 374 | 0.2193 | 6 | c.167 others(25): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33184097 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01261.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0026others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0055others(26): Show | 29 | 268 | 0.1082 | 6 | c.442 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33234699 | C | CCACACA | intron_variant | MODIFIER | HG02257.hp2 HG02698.hp1 HG02738.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0113a0001c0001t0001g0229a0001c0001t0002g0220others(1): Show | 4 | 268 | 0.0149 | 6 | c.443 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33249226 | G | GACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00738.hp1 others(20): Show |
a0001a0013 | a0001c0001a0001c0013a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0160a0001c0001t0001g0242a0001c0001t0001g0244others(20): Show | 23 | 268 | 0.0858 | 6 | c.443 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACACAC | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0039a0002c0002t0001g0197a0004c0004t0001g0182others(1): Show | 4 | 268 | 0.0149 | 6 | c.178 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33492811 | A | AGTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG02451.hp2 others(5): Show |
a0001a0007a0009 | a0001c0001a0007c0006a0009c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0072a0001c0001t0001g0143a0001c0001t0002g0120others(5): Show | 8 | 268 | 0.0299 | 6 | c.211 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565781 | G | GTATATA | intron_variant | MODIFIER | HG02109.hp2 HG03516.hp1 HG04204.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(1): Show | a0001c0001t0001g0119a0001c0001t0001g0143a0001c0001t0001g0191others(3): Show | 6 | 268 | 0.0224 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565819 | A | ATACCGC | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0072others(5): Show | 8 | 268 | 0.0299 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TTATATA | intron_variant | MODIFIER | HG01517.hp1 HG02523.hp2 HG03490.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004 | a0001c0001t0006g0054a0001c0001t0006g0077a0001c0001t0006g0087others(3): Show | 6 | 268 | 0.0224 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33574684 | A | AACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0050a0001c0001t0001g0055a0001c0001t0001g0057others(17): Show | 20 | 268 | 0.0746 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33574725 | A | ACACATG | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp2 HG03834.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0161others(3): Show | 6 | 268 | 0.0224 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33596299 | C | CACACAT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(21): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0001c0026others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0052a0001c0001t0001g0094a0001c0001t0001g0113others(21): Show | 24 | 268 | 0.0896 | 6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107523218 | A | AGCGGCG | intron_variant | MODIFIER | HG01952.hp1 HG02132.hp1 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219a0001c0001t0001g0221a0001c0001t0001g0222others(1): Show | 4 | 222 | 0.0180 | 6 | c.-15 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107638780 | T | TACACAC | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 NA18986.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0001a0004c0005t0002 | a0001c0001t0003g0077a0004c0005t0001g0064a0004c0005t0002g0161 | 3 | 222 | 0.0135 | 6 | c.-83 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018a0001c0001t0002g0089a0001c0001t0002g0162others(13): Show | 16 | 222 | 0.0721 | 6 | c.669 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0154a0001c0001t0002g0089a0001c0001t0002g0162others(13): Show | 16 | 222 | 0.0721 | 6 | c.220 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(42): Show |
a0001a0002a0010 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0193others(27): Show | 45 | 420 | 0.1071 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CACACAG | intron_variant | MODIFIER | HG01928.hp2 HG03098.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0014 | a0001c0001t0001a0002c0002t0001a0006c0014t0001 | a0001c0001t0001g0056a0002c0002t0001g0291a0002c0002t0001g0292others(1): Show | 4 | 420 | 0.0095 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CACAGAG | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 HG03209.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0057a0003c0004t0002g0307a0003c0004t0002g0308 | 3 | 420 | 0.0071 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156661555 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0059others(74): Show | 92 | 420 | 0.2191 | 6 | c.*24 others(17): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612391 | T | TTATATA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0019a0001c0001t0002g0253a0001c0001t0002g0263others(10): Show | 14 | 398 | 0.0352 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612433 | A | ATTTATT | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0088a0001c0001t0001g0343 | 3 | 398 | 0.0075 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATATATT | intron_variant | MODIFIER | HG00423.hp2 HG01358.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105a0001c0001t0003g0215a0001c0001t0003g0217others(1): Show | 4 | 398 | 0.0101 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATTTATT | intron_variant | MODIFIER | NA18998.hp2 NA19075.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0334 | 3 | 398 | 0.0075 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP31_chrX_153695492_153729387 | 153700135 | C | CGGGGGG | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0103 | 4 | 267 | 0.0150 | 6 | c.*80 others(15): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 356 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153709161 | C | CTGAGGT | intron_variant | MODIFIER | HG00558.hp1 HG02129.hp1 HG02132.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0054others(5): Show | 16 | 267 | 0.0599 | 6 | c.342 others(23): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4/7 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153724402 | C | CGCCCCT | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0065 | 2 | 267 | 0.0075 | 6 | c.-11 others(15): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 16 | chrX | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75225506 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(26): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0008a0001c0022others(3): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0022others(5): Show | a0001c0003t0003g0013a0001c0003t0003g0029a0001c0003t0003g0095others(21): Show | 29 | 392 | 0.0740 | 6 | c.*39 others(17): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2674 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75234160 | G | GACACAC | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01255.hp1 others(16): Show |
a0001a0002a0018others(1): Show | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0015others(4): Show | a0001c0003t0003g0093a0002c0002t0001g0025a0002c0002t0001g0056others(12): Show | 19 | 392 | 0.0485 | 6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp2 others(8): Show |
a0001a0021 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0002g0124a0001c0001t0002g0131a0001c0001t0002g0132others(8): Show | 11 | 392 | 0.0281 | 6 | c.13- others(21): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93593728 | A | AAACAAC | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02148.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0025others(14): Show | 17 | 202 | 0.0842 | 6 | c.358 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93660053 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0085a0001c0002t0001g0001a0001c0002t0001g0035others(4): Show | 8 | 202 | 0.0396 | 6 | c.317 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01516.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0038a0001c0001t0005g0039others(8): Show | 13 | 202 | 0.0644 | 6 | c.-11 others(21): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53946505 | G | GTATATA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(20): Show | a0001c0001t0005g0019a0001c0001t0011g0025a0001c0001t0015g0326others(58): Show | 61 | 364 | 0.1676 | 6 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGA | intron_variant | MODIFIER | HG01069.hp2 HG03041.hp2 HG03139.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0008a0004c0004t0003a0004c0004t0016 | a0001c0001t0008g0075a0001c0001t0008g0228a0001c0001t0008g0231others(3): Show | 6 | 364 | 0.0165 | 6 | c.155 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01069.hp2 others(45): Show |
a0003a0004a0009others(11): Show | a0003c0003a0004c0004a0009c0009others(11): Show | a0003c0003t0024a0004c0004t0001a0004c0004t0003others(18): Show | a0003c0003t0024g0237a0004c0004t0001g0287a0004c0004t0003g0080others(45): Show | 48 | 364 | 0.1319 | 6 | c.927 others(21): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54044837 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(85): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0034others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(45): Show | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0256others(84): Show | 88 | 364 | 0.2418 | 6 | c.142 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54051726 | T | TTTGTTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(57): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0005a0002c0002t0001a0003c0003t0001others(27): Show | a0001c0001t0005g0019a0002c0002t0001g0213a0002c0002t0001g0217others(56): Show | 60 | 364 | 0.1648 | 6 | c.142 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar |