| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BGN_chrX_153489980_153514546 | 153512636 | ATCACAC | A | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0083 | 1 | 321 | 0.0031 | -6 | c.*41 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3091 | chrX | TogoVar | ||||||
| BGN_chrX_153489980_153514546 | 153512836 | ACACACT | A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0017a0001c0003t0008others(2): Show | a0001c0001t0008g0020a0001c0001t0017g0020a0001c0003t0008g0068others(2): Show | 5 | 321 | 0.0156 | -6 | c.*43 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3291 | chrX | TogoVar | ||||||
| BHLHA9_chr17_1265444_1276815 | 1275491 | TGTGTGA | T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0000a0001c0002t0004g0000 | 5 | 442 | 0.0113 | -6 | c.*42 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3677 | chr17 | TogoVar | ||||||
| BHLHA9_chr17_1265444_1276815 | 1275804 | TGTGTGA | T | downstream_gene_variant | MODIFIER | HG02683.hp1 HG02970.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0000a0001c0002t0008g0000 | 3 | 442 | 0.0068 | -6 | c.*45 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3990 | chr17 | TogoVar | ||||||
| BHLHE22_chr8_64575365_64588627 | 64588187 | ACATAAC | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0003c0003t0002a0008c0009t0001 | a0003c0003t0001g0000a0003c0003t0002g0000a0008c0009t0001g0000 | 14 | 432 | 0.0324 | -6 | c.*62 others(17): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 4561 | chr8 | TogoVar | ||||||
| BHLHE40_chr3_4974437_4990323 | 4981185 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(8): Show | a0001c0001t0001g0007a0001c0001t0006g0034a0001c0001t0013g0035others(8): Show | 14 | 436 | 0.0321 | -6 | c.259 others(21): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BHLHE40_chr3_4974437_4990323 | 4983829 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 7 | 436 | 0.0161 | -6 | c.*15 others(15): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 158 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| BHMT2_chr5_79064767_79095069 | 79088358 | CTGTGTG | C | intron_variant | MODIFIER | HG02074.hp1 HG02257.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0183a0001c0001t0005g0184a0001c0001t0005g0185others(1): Show | 4 | 390 | 0.0103 | -6 | c.101 others(22): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| BHMT_chr5_79106809_79137288 | 79136976 | GTATATA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(112): Show | 135 | 432 | 0.3125 | -6 | c.*58 others(17): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4689 | chr5 | TogoVar | ||||||
| BICC1_chr10_58507872_58836435 | 58562981 | TATAGGG | T | intron_variant | MODIFIER | HG00639.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004 | a0001c0001t0005g0014a0002c0002t0004g0015 | 2 | 132 | 0.0152 | -6 | c.190 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
| BICC1_chr10_58507872_58836435 | 58583584 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01261.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0054a0001c0001t0003g0019a0001c0001t0007g0122others(12): Show | 15 | 132 | 0.1136 | -6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58584055 | AACACAC | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0075a0001c0001t0001g0107a0001c0001t0001g0108others(46): Show | 49 | 132 | 0.3712 | -6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58601139 | CTTATAT | C | intron_variant | MODIFIER | HG04115.hp2 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0020a0002c0002t0005g0033 | 2 | 132 | 0.0152 | -6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
| BICC1_chr10_58507872_58836435 | 58639719 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0011a0001c0001t0028a0002c0002t0004others(3): Show | a0001c0001t0011g0077a0001c0001t0028g0048a0002c0002t0004g0015others(3): Show | 6 | 132 | 0.0455 | -6 | c.237 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58692708 | GTCATAC | G | intron_variant | MODIFIER | HG01167.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0002a0001c0001t0028a0002c0002t0009others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0013a0001c0001t0028g0048others(2): Show | 5 | 132 | 0.0379 | -6 | c.238 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58764035 | AAGGTAC | A | intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004 | a0001c0001t0006g0085a0002c0002t0004g0043 | 2 | 132 | 0.0152 | -6 | c.308 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58769372 | ATGTATG | A | intron_variant | MODIFIER | HG01261.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0081a0001c0001t0049g0076 | 2 | 132 | 0.0152 | -6 | c.308 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58794165 | TTGTGTG | T | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG03209.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0006a0002c0008others(1): Show | a0002c0002t0010a0002c0006t0039a0002c0008t0045others(1): Show | a0002c0002t0010g0123a0002c0006t0039g0110a0002c0008t0045g0118others(1): Show | 4 | 132 | 0.0303 | -6 | c.117 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58816745 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0081others(48): Show | 51 | 132 | 0.3864 | -6 | c.253 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58831507 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0030a0004c0005t0034others(1): Show | a0002c0003t0004g0052a0004c0005t0030g0009a0004c0005t0034g0053others(1): Show | 4 | 132 | 0.0303 | -6 | c.*26 others(17): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 73 | chr10 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32117731 | CACACAT | C | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01943.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0184others(39): Show | 42 | 290 | 0.1448 | -6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32117754 | ATATATT | A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0005a0001c0002t0007 | a0001c0001t0016g0154a0001c0002t0005g0151a0001c0002t0007g0150 | 3 | 290 | 0.0103 | -6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32120891 | GAGAGAA | G | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01167.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0255a0001c0001t0004g0019a0001c0001t0004g0166others(53): Show | 56 | 290 | 0.1931 | -6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32121591 | CAAAAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(200): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0174a0001c0001t0001g0181a0001c0001t0001g0182others(200): Show | 203 | 290 | 0.7000 | -6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32168007 | CGTGTGT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0004g0149a0001c0001t0010g0161a0001c0001t0012g0237others(2): Show | 5 | 290 | 0.0172 | -6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32171940 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(6): Show | a0001c0001t0007g0027a0001c0001t0015g0042a0001c0001t0017g0093others(7): Show | 10 | 290 | 0.0345 | -6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32238944 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0004a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0004g0019a0001c0001t0004g0166a0001c0001t0009g0068others(5): Show | 8 | 290 | 0.0276 | -6 | c.426 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32282202 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0061 | a0001c0001t0006g0152a0001c0001t0006g0153a0001c0001t0006g0156others(3): Show | 6 | 290 | 0.0207 | -6 | c.427 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32283144 | TAGGAAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0038a0001c0001t0001g0049a0001c0001t0001g0193others(170): Show | 173 | 290 | 0.5966 | -6 | c.427 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32288223 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(5): Show | a0001c0001t0001g0182a0001c0001t0009g0068a0001c0001t0014g0030others(8): Show | 11 | 290 | 0.0379 | -6 | c.427 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32296250 | TTTTTTG | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0038a0001c0001t0001g0049a0001c0001t0001g0193others(31): Show | 34 | 290 | 0.1172 | -6 | c.579 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32324566 | CTTTTCT | C | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02145.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0004g0287others(21): Show | 24 | 290 | 0.0828 | -6 | c.100 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32342204 | GTATATA | G | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0001t0015a0001c0001t0018others(4): Show | a0001c0001t0014g0030a0001c0001t0014g0031a0001c0001t0015g0020others(7): Show | 10 | 290 | 0.0345 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32346159 | TAAAAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00741.hp2 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0017others(3): Show | a0001c0001t0006g0021a0001c0001t0006g0023a0001c0001t0006g0034others(25): Show | 28 | 290 | 0.0966 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32346536 | GTATATA | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0002others(3): Show | a0001c0001t0006g0152a0001c0001t0006g0153a0001c0001t0006g0156others(13): Show | 16 | 290 | 0.0552 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32348723 | AATATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02129.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0089a0001c0001t0001g0258a0001c0001t0003g0177others(4): Show | 7 | 290 | 0.0241 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32363997 | TCATCAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(187): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0276others(187): Show | 190 | 290 | 0.6552 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32382310 | TAAGAAG | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0002others(10): Show | a0001c0001t0002g0199a0001c0001t0020g0217a0001c0002t0002g0043others(59): Show | 62 | 290 | 0.2138 | -6 | c.*46 others(17): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 10/10 | 4691 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| BICD2_chr9_92706363_92769833 | 92751134 | TTTGTTG | T | intron_variant | MODIFIER | HG00597.hp1 NA18940.hp1 NA18942.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0022a0001c0002t0003others(2): Show | a0001c0001t0003g0006a0001c0001t0003g0014a0001c0001t0003g0015others(23): Show | 34 | 360 | 0.0944 | -6 | c.240 others(25): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| BICD2_chr9_92706363_92769833 | 92757312 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
a0001a0004a0007 | a0001c0001a0001c0009a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0002g0005a0001c0001t0002g0028a0001c0001t0002g0029others(101): Show | 127 | 360 | 0.3528 | -6 | c.240 others(23): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| BICDL1_chr12_119984236_120099494 | 119996681 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(93): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0002g0004a0001c0001t0002g0132a0001c0001t0002g0133others(91): Show | 96 | 296 | 0.3243 | -6 | c.430 others(23): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICDL1_chr12_119984236_120099494 | 120013439 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0121a0001c0001t0003g0276others(18): Show | 21 | 296 | 0.0710 | -6 | c.645 others(25): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICDL1_chr12_119984236_120099494 | 120036008 | ATTTATG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0017 | a0001c0001t0003g0130a0001c0001t0003g0131a0001c0001t0003g0260others(14): Show | 17 | 296 | 0.0574 | -6 | c.646 others(25): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICDL1_chr12_119984236_120099494 | 120081141 | ACCCACC | A | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0024 | 3 | 296 | 0.0101 | -6 | c.158 others(23): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICRAL_chr6_42777052_42873556 | 42779223 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0038a0001c0001t0001g0071a0001c0001t0001g0075others(71): Show | 74 | 270 | 0.2741 | -6 | c.-29 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2828 | chr6 | TogoVar | ||||||
| BICRAL_chr6_42777052_42873556 | 42779269 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 NA19005.hp1 NA19056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0212a0001c0001t0001g0214others(1): Show | 4 | 270 | 0.0148 | -6 | c.-29 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2782 | chr6 | TogoVar | ||||||
| BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0050a0001c0001t0001g0051others(20): Show | 23 | 270 | 0.0852 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BICRAL_chr6_42777052_42873556 | 42793969 | CATTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(158): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0014others(158): Show | 161 | 270 | 0.5963 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BICRAL_chr6_42777052_42873556 | 42794411 | CTGTGTG | C | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0025others(15): Show | 18 | 270 | 0.0667 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BICRAL_chr6_42777052_42873556 | 42844508 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0230a0001c0001t0002g0066others(3): Show | 6 | 270 | 0.0222 | -6 | c.184 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |