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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42857600 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007a0001c0001t0006g0023a0001c0001t0006g0067 | 3 | 270 | 0.0111 | -10 | c.225 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47659685 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG02922.hp2 others(4): Show |
a0001a0013a0014 | a0001c0003a0001c0013a0013c0041others(1): Show | a0001c0003t0003a0001c0003t0004a0001c0013t0006others(2): Show | a0001c0003t0003g0020a0001c0003t0004g0008a0001c0003t0004g0101others(4): Show | 7 | 312 | 0.0224 | -10 | c.-10 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685780 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0032 | a0001c0001t0003a0003c0004t0004a0003c0032t0004 | a0001c0001t0003g0193a0003c0004t0004g0050a0003c0004t0004g0063others(4): Show | 7 | 312 | 0.0224 | -10 | c.228 others(29): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BID_chr22_17729138_17779469 | 17756478 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01433.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(7): Show | 10 | 362 | 0.0276 | -10 | c.-58 others(27): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17774510 | GGGCCCGC others(3): Show |
G | upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 362 | 0.0028 | -10 | c.-19 others(19): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 42 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43120042 | GCTGGTGA others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp2 others(29): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0046a0001c0001t0001g0047others(21): Show | 32 | 386 | 0.0829 | -10 | c.-7- others(25): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BIK_chr22_43105750_43134712 | 43130417 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 NA18984.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0159 | 4 | 386 | 0.0104 | -10 | c.*11 others(21): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127044133 | TCACACAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0017a0001c0001t0001g0039a0001c0001t0001g0041others(2): Show | 6 | 344 | 0.0174 | -10 | c.*43 others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3898 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127044324 | CTTCACAC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01123.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0003g0172a0001c0003t0001g0012a0001c0003t0001g0067others(33): Show | 37 | 344 | 0.1076 | -10 | c.*41 others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3707 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127077316 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(45): Show | 48 | 344 | 0.1395 | -10 | c.85- others(23): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG02027.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0137a0001c0001t0001g0279a0001c0001t0001g0294others(7): Show | 10 | 400 | 0.0250 | -10 | c.761 others(25): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22645533 | GAGGAAAG others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0225 | 1 | 386 | 0.0026 | -10 | c.9-7 others(21): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649849 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0001g0243 | 3 | 386 | 0.0078 | -10 | c.9-5 others(23): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02056.hp1 NA18951.hp1 NA18955.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0006a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0006g0306a0001c0001t0006g0307a0001c0001t0006g0308others(12): Show | 15 | 386 | 0.0389 | -10 | c.8+5 others(23): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342340 | GTATGTAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 344 | 0.0029 | -10 | c.-62 others(21): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342344 | GTATATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116a0001c0001t0001g0178a0001c0001t0002g0285 | 3 | 344 | 0.0087 | -10 | c.-62 others(21): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102353679 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | 344 | 0.0058 | -10 | c.995 others(27): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102342340 | GTATGTAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | -10 | c.*52 others(21): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342344 | GTATATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02698.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0009a0001c0004t0031 | a0001c0001t0003g0001a0001c0004t0009g0030a0001c0004t0031g0137 | 3 | 384 | 0.0078 | -10 | c.*52 others(21): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369943 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0262 | 2 | 274 | 0.0073 | -10 | c.326 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369945 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 274 | 0.0037 | -10 | c.326 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369976 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp2 NA18906.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003 | a0001c0003t0003g0058a0002c0002t0003g0150 | 2 | 274 | 0.0073 | -10 | c.326 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 274 | 0.0037 | -10 | c.324 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32439187 | GTGCGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0038 | 1 | 274 | 0.0037 | -10 | c.363 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 15/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32458683 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0066a0002c0004t0002g0200 | 2 | 274 | 0.0073 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460270 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA21309.hp2 |
a0001a0002 | a0001c0010a0002c0035 | a0001c0010t0002a0002c0035t0012 | a0001c0010t0002g0052a0002c0035t0012g0104 | 2 | 274 | 0.0073 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460993 | CTCTGCTC others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG06807.hp2 |
a0001a0009 | a0001c0007a0009c0029 | a0001c0007t0006a0009c0029t0002 | a0001c0007t0006g0185a0009c0029t0002g0181 | 2 | 274 | 0.0073 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460998 | CTCTCTTC others(3): Show |
C | intron_variant | MODIFIER | HG02004.hp1 HG03098.hp1 HG03225.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0010t0002 | a0001c0009t0001g0027a0001c0009t0001g0029a0001c0010t0002g0063 | 3 | 274 | 0.0110 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461057 | CTTCTCTT others(3): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG03041.hp1 NA19056.hp1 |
a0002a0007 | a0002c0002a0002c0027a0007c0032 | a0002c0002t0002a0002c0027t0002a0007c0032t0011 | a0002c0002t0002g0078a0002c0027t0002g0068a0007c0032t0011g0149 | 3 | 274 | 0.0110 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461063 | TTCTGTTC others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG03453.hp2 |
a0001a0002 | a0001c0012a0002c0002 | a0001c0012t0003a0002c0002t0002 | a0001c0012t0003g0273a0002c0002t0002g0161 | 2 | 274 | 0.0073 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461068 | TTCTCCTC others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0153 | 1 | 274 | 0.0037 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461121 | TCCTCTCC others(3): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 274 | 0.0037 | -10 | c.475 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32473706 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 NA18955.hp2 others(1): Show |
a0001a0002 | a0001c0013a0002c0004 | a0001c0013t0003a0002c0004t0002 | a0001c0013t0003g0036a0001c0013t0003g0152a0001c0013t0003g0153others(1): Show | 4 | 274 | 0.0146 | -10 | c.672 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 33/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp2 NA18979.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072a0002c0002t0002g0079a0002c0002t0002g0081others(1): Show | 4 | 274 | 0.0146 | -10 | c.740 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0004a0001c0007t0007a0001c0030t0004 | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(4): Show | 7 | 274 | 0.0256 | -10 | c.998 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32511476 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0063 | 1 | 274 | 0.0037 | -10 | c.103 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 53/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32532134 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0011 | a0011c0028 | a0011c0028t0002 | a0011c0028t0002g0179 | 1 | 274 | 0.0037 | -10 | c.122 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02965.hp2 others(5): Show |
a0001a0004a0011 | a0001c0009a0004c0019a0004c0047others(1): Show | a0001c0009t0001a0004c0019t0003a0004c0047t0003others(1): Show | a0001c0009t0001g0025a0001c0009t0001g0026a0001c0009t0001g0027others(5): Show | 8 | 274 | 0.0292 | -10 | c.131 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32596468 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0014 | a0001c0014t0001a0001c0014t0003 | a0001c0014t0001g0156a0001c0014t0001g0158a0001c0014t0003g0157 | 3 | 274 | 0.0110 | -10 | c.136 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 68/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63244720 | CGCAGACA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 300 | 0.0033 | -10 | c.*44 others(21): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 4226 | chr20 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11492272 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0003a0001c0002t0012others(1): Show | a0001c0001t0002g0024a0001c0002t0003g0271a0001c0002t0003g0282others(2): Show | 5 | 308 | 0.0162 | -10 | c.-23 others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 2114 | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG03041.hp2 NA18980.hp1 |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0006a0004c0009t0004 | a0001c0004t0006g0134a0004c0009t0004g0087 | 2 | 308 | 0.0065 | -10 | c.-2+ others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11520476 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02683.hp1 HG04199.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0008 | a0001c0003t0007a0003c0008t0012 | a0001c0003t0007g0028a0003c0008t0012g0091a0003c0008t0012g0092others(1): Show | 4 | 308 | 0.0130 | -10 | c.-1- others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11535314 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(1): Show | a0001c0001t0001g0131a0001c0001t0002g0040a0001c0001t0002g0056others(6): Show | 9 | 308 | 0.0292 | -10 | c.-1- others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11552363 | GCATATAC others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 308 | 0.0033 | -10 | c.472 others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90730603 | GCGCCCAG others(3): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 280 | 0.0036 | -10 | c.-5+ others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90734694 | CGCAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0277 | 1 | 280 | 0.0036 | -10 | c.-4- others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90734696 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02040.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(3): Show | 6 | 280 | 0.0214 | -10 | c.-4- others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90735236 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00642.hp1 others(58): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0047others(58): Show | 61 | 280 | 0.2179 | -10 | c.-4- others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90738564 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02602.hp1 HG02809.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0009a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(2): Show | a0001c0001t0001g0212a0001c0001t0002g0020a0001c0009t0001g0277others(2): Show | 5 | 280 | 0.0179 | -10 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |