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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33231428 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00741.hp2 others(29): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0024 | a0001c0001t0003a0001c0001t0004a0002c0002t0003others(4): Show | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0027 others(29): Show |
32 | 268 | 0.1194 | 3 | c.443 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33260004 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0045 a0002c0002t0001g0137 a0002c0002t0001g0138 others(6): Show |
9 | 268 | 0.0336 | 3 | c.617 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33263105 | A | AATG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(210): Show |
213 | 268 | 0.7948 | 3 | c.618 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33270021 | C | CAAA | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02630.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0022 | a0001c0001t0001a0004c0004t0001a0004c0022t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0182 others(5): Show |
8 | 268 | 0.0299 | 3 | c.703 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33280905 | G | GTTT | intron_variant | MODIFIER | HG01358.hp2 HG02015.hp2 HG02055.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0191 a0001c0001t0002g0199 others(8): Show |
11 | 268 | 0.0410 | 3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33303522 | T | TCCC | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00639.hp2 others(30): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0025a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 others(30): Show |
33 | 268 | 0.1231 | 3 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33303532 | C | CCCG | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03453.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0019 | a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0189 others(2): Show |
5 | 268 | 0.0187 | 3 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33341639 | A | AATC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(260): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0009a0001c0010others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(260): Show |
263 | 268 | 0.9813 | 3 | c.127 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33374447 | T | TATA | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02809.hp1 others(6): Show |
a0001a0004 | a0001c0010a0001c0023a0004c0004others(1): Show | a0001c0010t0001a0001c0023t0001a0004c0004t0001others(1): Show | a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0023t0001g0168 others(6): Show |
9 | 268 | 0.0336 | 3 | c.178 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33375596 | T | TTTC | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0023a0002c0002 | a0001c0023t0001a0002c0002t0001 | a0001c0023t0001g0168 a0002c0002t0001g0195 a0002c0002t0001g0196 others(2): Show |
5 | 268 | 0.0187 | 3 | c.178 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33432275 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01884.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0009a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 others(14): Show |
17 | 268 | 0.0634 | 3 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33439533 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01358.hp2 others(24): Show |
a0001a0009a0013 | a0001c0001a0009c0008a0013c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 others(24): Show |
27 | 268 | 0.1008 | 3 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33492203 | G | GAAA | intron_variant | MODIFIER | HG01981.hp1 HG02074.hp2 HG02293.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0064 others(4): Show |
7 | 268 | 0.0261 | 3 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33513418 | A | ATTC | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0010a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0158 others(7): Show |
10 | 268 | 0.0373 | 3 | c.229 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33516487 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp2 others(41): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0020a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(41): Show |
44 | 268 | 0.1642 | 3 | c.229 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33541955 | A | AAAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(133): Show |
136 | 268 | 0.5075 | 3 | c.252 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33545924 | C | CTTT | intron_variant | MODIFIER | HG02129.hp1 HG02257.hp2 HG02559.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0131 others(8): Show |
11 | 268 | 0.0410 | 3 | c.252 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TATA | intron_variant | MODIFIER | HG00741.hp2 HG01517.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0106 others(12): Show |
15 | 268 | 0.0560 | 3 | c.252 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33591866 | C | CCAT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0013a0001c0025others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(55): Show |
58 | 268 | 0.2164 | 3 | c.252 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107523218 | A | AGCG | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0217 a0001c0001t0002g0214 a0001c0001t0002g0216 others(2): Show |
5 | 222 | 0.0225 | 3 | c.-15 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107555070 | A | AAAC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0104 a0001c0001t0001g0165 a0001c0001t0001g0217 others(23): Show |
26 | 222 | 0.1171 | 3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107566175 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0002g0031 a0001c0001t0002g0200 a0001c0001t0010g0036 others(8): Show |
11 | 222 | 0.0496 | 3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584023 | T | TACA | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0032a0003c0003t0033a0007c0006t0048 | a0003c0003t0032g0016 a0003c0003t0033g0005 a0007c0006t0048g0004 |
3 | 222 | 0.0135 | 3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107592360 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0093 others(10): Show |
13 | 222 | 0.0586 | 3 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | C | CTTT | intron_variant | MODIFIER | HG01433.hp2 HG01516.hp1 HG01975.hp1 others(13): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0217 a0001c0001t0003g0069 a0001c0001t0003g0135 others(13): Show |
16 | 222 | 0.0721 | 3 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107690891 | C | CTTT | intron_variant | MODIFIER | HG01099.hp2 HG02572.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0140 a0001c0001t0002g0177 a0001c0001t0003g0152 others(2): Show |
5 | 222 | 0.0225 | 3 | c.-9- others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107691036 | A | ACTT | intron_variant | MODIFIER | HG01169.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0084 a0001c0001t0018g0142 |
2 | 222 | 0.0090 | 3 | c.-9- others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107726459 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp1 others(80): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(80): Show |
83 | 222 | 0.3739 | 3 | c.406 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTT | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01099.hp1 others(24): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0057 others(24): Show |
27 | 222 | 0.1216 | 3 | c.669 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107795613 | C | CTTT | intron_variant | MODIFIER | HG01433.hp2 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0004g0181 a0001c0001t0011g0184 a0001c0001t0014g0030 others(3): Show |
6 | 222 | 0.0270 | 3 | c.235 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44823716 | C | CTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(15): Show | a0001c0001t0001g0044 a0001c0001t0001g0142 a0001c0001t0002g0002 others(55): Show |
113 | 410 | 0.2756 | 3 | c.*27 others(14): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 2296 | chr19 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156650125 | G | GGTA | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0159 a0001c0001t0002g0031 a0001c0005t0001g0225 |
4 | 420 | 0.0095 | 3 | c.106 others(22): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156664023 | A | AAAG | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0157 others(17): Show |
24 | 420 | 0.0571 | 3 | c.*48 others(14): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 4496 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107599003 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0103 others(21): Show |
25 | 398 | 0.0628 | 3 | c.481 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107602931 | A | ACTT | intron_variant | MODIFIER | HG02965.hp1 NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 |
3 | 398 | 0.0075 | 3 | c.589 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107603604 | A | ATTT | intron_variant | MODIFIER | HG02027.hp2 HG02559.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0073 others(3): Show |
6 | 398 | 0.0151 | 3 | c.589 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153700135 | C | CGGG | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 others(1): Show |
4 | 267 | 0.0150 | 3 | c.*80 others(12): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 356 | chrX | TogoVar | |||||||
BCAP31_chrX_153695492_153729387 | 153713881 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0103 others(1): Show |
4 | 267 | 0.0150 | 3 | c.341 others(20): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4/7 | chrX | TogoVar | |||||||
BCAP31_chrX_153695492_153729387 | 153717003 | A | ACCT | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01175.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(40): Show |
60 | 267 | 0.2247 | 3 | c.194 others(20): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 3/7 | chrX | TogoVar | |||||||
BCAP31_chrX_153695492_153729387 | 153720843 | G | GCTC | intron_variant | MODIFIER | NA19068.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0135 | 1 | 267 | 0.0038 | 3 | c.193 others(16): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 3/7 | chrX | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75225506 | C | CTTT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG02300.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0002g0127 a0001c0002t0001g0125 a0001c0002t0001g0216 others(5): Show |
12 | 392 | 0.0306 | 3 | c.*40 others(14): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2674 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTT | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG03486.hp1 others(9): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0044 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0271 a0001c0001t0002g0015 a0001c0001t0002g0173 others(7): Show |
12 | 392 | 0.0306 | 3 | c.13- others(18): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75253970 | A | ATTT | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02145.hp1 HG02258.hp1 others(3): Show |
a0002a0016 | a0002c0003a0002c0005a0016c0026 | a0002c0003t0001a0002c0005t0001a0016c0026t0001 | a0002c0003t0001g0005 a0002c0003t0001g0046 a0002c0003t0001g0234 others(3): Show |
6 | 392 | 0.0153 | 3 | c.-24 others(14): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2347 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93573399 | A | AAAT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(76): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(76): Show |
79 | 202 | 0.3911 | 3 | c.180 others(22): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93591168 | T | TAAA | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01516.hp2 others(33): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show |
36 | 202 | 0.1782 | 3 | c.486 others(20): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93593728 | A | AAAC | intron_variant | MODIFIER | NA19068.hp1 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0047 a0003c0004t0001g0087 |
2 | 202 | 0.0099 | 3 | c.358 others(20): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53983225 | G | GATA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0001g0246 a0001c0001t0004g0325 a0001c0001t0007g0014 others(68): Show |
72 | 364 | 0.1978 | 3 | c.127 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 8/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54043297 | T | TTGA | intron_variant | MODIFIER | HG02132.hp1 HG03834.hp1 NA18945.hp2 others(4): Show |
a0002a0024a0030others(2): Show | a0002c0002a0024c0039a0030c0038others(2): Show | a0002c0002t0001a0024c0039t0003a0030c0038t0038others(2): Show | a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 others(4): Show |
7 | 364 | 0.0192 | 3 | c.143 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54046528 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(59): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0034others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(27): Show | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0257 others(58): Show |
62 | 364 | 0.1703 | 3 | c.142 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54046843 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0007a0001c0017others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0224 a0001c0001t0001g0258 a0001c0001t0002g0154 others(102): Show |
105 | 364 | 0.2885 | 3 | c.142 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar |