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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42846391 | T | TTAAATAA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02615.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0002g0213 others(3): Show |
6 | 270 | 0.0222 | 12 | c.184 others(31): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 a0001c0001t0003g0159 a0001c0001t0003g0204 |
3 | 270 | 0.0111 | 12 | c.225 others(29): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0117 a0001c0001t0011g0222 a0001c0001t0023g0118 |
3 | 270 | 0.0111 | 12 | c.225 others(29): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47656069 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0188 a0002c0003t0002g0281 |
2 | 312 | 0.0064 | 12 | c.-10 others(33): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47661213 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01175.hp2 others(22): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0001g0177 others(22): Show |
25 | 312 | 0.0801 | 12 | 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 | 47682061 | A | AAGACCCA others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02698.hp1 | a0018 | a0018c0025 | a0018c0025t0001 | a0018c0025t0001g0240 | 1 | 312 | 0.0032 | 12 | c.219 others(21): Show |
p.Asp others(13): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/15 | 2349/5687 | 2207/4683 | 736/1560 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
BICRA_chr19_47604134_47708277 | 47685741 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685784 | T | TGCGCGCG others(5): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGCGCGCG others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18522.hp1 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0194 others(1): Show |
4 | 312 | 0.0128 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGCGCG others(5): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0232 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGCG others(5): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0050 | a0002c0050t0010 | a0002c0050t0010g0295 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0137 | 1 | 312 | 0.0032 | 12 | c.228 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756432 | C | CTTCTTTC others(5): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0154 | 1 | 362 | 0.0028 | 12 | c.-58 others(29): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17769042 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0163 a0001c0001t0009g0333 |
2 | 362 | 0.0055 | 12 | c.-59 others(29): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17771783 | A | ATGGGCTG others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0326 others(10): Show |
13 | 362 | 0.0359 | 12 | c.-59 others(29): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127082087 | A | ACCCCAAG others(5): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 344 | 0.0029 | 12 | c.85- others(27): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127100999 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037 a0001c0001t0003g0172 |
2 | 344 | 0.0058 | 12 | c.84+ others(27): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0089 | 1 | 344 | 0.0029 | 12 | c.84+ others(27): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313184 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00741.hp2 others(39): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0245 a0001c0001t0001g0281 a0001c0001t0001g0282 others(39): Show |
42 | 400 | 0.1050 | 12 | c.162 others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313216 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(29): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0001c0021others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0021t0001others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0235 a0001c0001t0001g0236 others(28): Show |
32 | 400 | 0.0800 | 12 | c.162 others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313216 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 400 | 0.0025 | 12 | c.162 others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313220 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19083.hp1 NA19240.hp2 |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0001a0002c0002t0002a0003c0003t0001 | a0001c0004t0001g0359 a0002c0002t0002g0075 a0003c0003t0001g0346 |
3 | 400 | 0.0075 | 12 | c.162 others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313228 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0054 | 1 | 400 | 0.0025 | 12 | c.162 others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01978.hp2 HG02083.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0262 a0001c0001t0001g0263 others(9): Show |
12 | 400 | 0.0300 | 12 | c.81+ others(27): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51324943 | C | CAAATAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0271 |
2 | 400 | 0.0050 | 12 | c.-84 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 770 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22634419 | A | ATGGTGGT others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(6): Show |
10 | 386 | 0.0259 | 12 | c.160 others(29): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22648894 | C | CGTATGTA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0245 a0001c0002t0003g0257 a0001c0002t0003g0262 |
3 | 386 | 0.0078 | 12 | c.9-4 others(25): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649850 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01978.hp1 HG02015.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0037others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0026 others(21): Show |
26 | 386 | 0.0674 | 12 | c.9-5 others(25): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02300.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0086 others(7): Show |
11 | 344 | 0.0320 | 12 | c.-62 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTGTAT others(5): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 344 | 0.0029 | 12 | c.-62 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 344 | 0.0029 | 12 | c.-62 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02647.hp1 NA18949.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0004a0006c0008t0001 | a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0004g0061 others(2): Show |
5 | 344 | 0.0145 | 12 | c.-62 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATGT others(5): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0166 a0001c0001t0011g0168 |
2 | 344 | 0.0058 | 12 | c.-62 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102364139 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02630.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0075 others(4): Show |
8 | 344 | 0.0233 | 12 | c.112 others(29): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02602.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0207 |
2 | 344 | 0.0058 | 12 | c.112 others(29): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01167.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
13 | 344 | 0.0378 | 12 | c.112 others(29): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTATTTAT others(5): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 384 | 0.0026 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 HG02559.hp2 HG02602.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(6): Show |
10 | 384 | 0.0260 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATTT others(5): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 384 | 0.0026 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTGTAT others(5): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 384 | 0.0026 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02647.hp2 NA18956.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0039a0003c0005t0020 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0039g0033 others(1): Show |
5 | 384 | 0.0130 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 NA18984.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0007 | 2 | 384 | 0.0052 | 12 | c.*52 others(23): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32369945 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0048 | 1 | 274 | 0.0037 | 12 | c.326 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369945 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18954.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0070 a0002c0004t0002g0180 |
2 | 274 | 0.0073 | 12 | c.326 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32370061 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0011 | a0011c0028 | a0011c0028t0002 | a0011c0028t0002g0179 | 1 | 274 | 0.0037 | 12 | c.326 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397574 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0019 a0001c0007t0004g0020 |
2 | 274 | 0.0073 | 12 | c.103 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19057.hp1 |
a0001a0002 | a0001c0005a0002c0035 | a0001c0005t0001a0002c0035t0001 | a0001c0005t0001g0207 a0002c0035t0001g0222 |
2 | 274 | 0.0073 | 12 | c.324 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460245 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 a0001c0003t0003g0034 |
2 | 274 | 0.0073 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 274 | 0.0037 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |