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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEAN1_chr16_66422295_66487833 | 66474573 | GGAGGGAG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01175.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0008a0001c0001t0001g0031a0001c0001t0001g0095others(9): Show | 13 | 298 | 0.0436 | -8 | c.290 others(25): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BECN2_chr1_241952767_241964062 | 241957043 | GTGTGTGT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01261.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0000a0002c0002t0000a0003c0003t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0003c0003t0000g0000 | 19 | 444 | 0.0428 | -8 | c.-72 others(17): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 723 | chr1 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957051 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 NA19043.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 3 | 444 | 0.0068 | -8 | c.-71 others(17): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 715 | chr1 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241959404 | GGCTGGAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0000a0002c0002t0000 | a0001c0001t0000g0000a0002c0002t0000g0000 | 58 | 444 | 0.1306 | -8 | c.*34 others(17): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 343 | chr1 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546776 | GCGCGCAC others(1): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02615.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0005a0001c0003t0006others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0195a0001c0003t0005g0297others(5): Show | 8 | 326 | 0.0245 | -8 | c.72- others(21): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100570496 | GCGGCCCT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0181a0001c0005t0002g0068a0001c0005t0002g0078others(1): Show | 4 | 326 | 0.0123 | -8 | c.43- others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100585194 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(178): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(173): Show | 181 | 326 | 0.5552 | -8 | c.42+ others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100585225 | ATCCATCC others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02056.hp2 HG02523.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0036a0001c0002t0001g0030a0001c0004t0001g0004others(8): Show | 12 | 326 | 0.0368 | -8 | c.42+ others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100585415 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG02083.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0281a0001c0001t0001g0286a0001c0002t0001g0280others(9): Show | 13 | 326 | 0.0399 | -8 | c.42+ others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18164309 | GCCACTAC others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0188 | 1 | 295 | 0.0034 | -8 | c.*69 others(17): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 14/14 | 692 | chrX | TogoVar | |||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0035others(41): Show | 44 | 295 | 0.1492 | -8 | c.-32 others(19): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(1): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034a0001c0001t0039 | a0001c0001t0003g0012a0001c0001t0003g0092a0001c0001t0003g0323others(2): Show | 5 | 368 | 0.0136 | -8 | c.241 others(25): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0002g0119a0001c0001t0004g0042a0001c0001t0004g0212others(18): Show | 21 | 368 | 0.0571 | -8 | c.241 others(25): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107094621 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(91): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0013a0001c0001t0002g0015a0001c0001t0002g0017others(90): Show | 94 | 368 | 0.2554 | -8 | c.240 others(25): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107110030 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01071.hp2 others(28): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0013a0001c0001t0002g0015a0001c0001t0002g0017others(28): Show | 31 | 368 | 0.0842 | -8 | c.-12 others(25): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48762612 | TTTTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0290a0001c0001t0001g0295a0001c0002t0001g0088 | 3 | 342 | 0.0088 | -8 | c.227 others(25): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48769526 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0024a0001c0002t0001g0088a0001c0003t0002g0021others(1): Show | 6 | 342 | 0.0175 | -8 | c.226 others(25): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48778135 | ACATCCAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0001 | a0001c0001t0001g0019a0001c0001t0001g0090a0001c0001t0001g0137others(5): Show | 9 | 342 | 0.0263 | -8 | c.-13 others(19): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1245 | chr1 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56965676 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0124a0001c0001t0002g0001a0001c0001t0002g0003others(34): Show | 44 | 204 | 0.2157 | -8 | c.-10 others(29): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND6_chr6_56950107_57032346 | 57022144 | ATTTTTCT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0002a0001c0001t0003g0169a0001c0001t0003g0170others(7): Show | 14 | 204 | 0.0686 | -8 | c.*9+ others(23): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEST1_chr11_61945351_61969461 | 61953886 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03688.hp2 NA18939.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0042a0001c0001t0001g0077a0001c0001t0001g0089others(2): Show | 6 | 410 | 0.0146 | -8 | c.153 others(25): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST1_chr11_61945351_61969461 | 61958899 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01074.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0030others(21): Show | 45 | 410 | 0.1098 | -8 | c.868 others(23): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69700888 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0221a0001c0001t0001g0282a0001c0001t0002g0012others(28): Show | 31 | 366 | 0.0847 | -8 | c.-17 others(19): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1586 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69700944 | CTTCCTTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01358.hp1 HG01978.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0081others(9): Show | 12 | 366 | 0.0328 | -8 | c.-17 others(19): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1642 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69700956 | CTTCCTTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0001c0001t0009a0004c0005t0005 | a0001c0001t0004g0040a0001c0001t0004g0041a0001c0001t0004g0044others(8): Show | 11 | 366 | 0.0301 | -8 | c.-17 others(19): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1654 | chr12 | TogoVar | ||||||
BEST4_chr1_44778585_44793170 | 44782629 | CAAATAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(90): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0002g0002others(7): Show | 93 | 390 | 0.2385 | -8 | c.*15 others(19): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 955 | chr1 | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103059972 | ATCTCTCT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02615.hp2 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(1): Show | 5 | 339 | 0.0148 | -8 | c.*29 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2678 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060010 | CTCTCTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0030 | -8 | c.*28 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060014 | CTCTATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 339 | 0.0030 | -8 | c.*28 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2636 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060016 | CTATATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02080.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(1): Show | 5 | 339 | 0.0148 | -8 | c.*28 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066001 | ATATGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 339 | 0.0030 | -8 | c.-20 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1831 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066003 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(7): Show | 47 | 339 | 0.1386 | -8 | c.-20 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1833 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103309250 | GTGTATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0005g0009others(1): Show | 12 | 308 | 0.0390 | -8 | c.*33 others(17): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103309252 | GTATATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02572.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0007 | 8 | 308 | 0.0260 | -8 | c.*33 others(17): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 93 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103212998 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 NA18981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 6 | 334 | 0.0180 | -8 | c.-23 others(19): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2109 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17497627 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01952.hp2 others(17): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0015a0001c0003t0003g0045a0001c0003t0003g0057others(16): Show | 20 | 396 | 0.0505 | -8 | c.957 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133440226 | CATGATTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(230): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(225): Show | 233 | 276 | 0.8442 | -8 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01952.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0043others(19): Show | 22 | 276 | 0.0797 | -8 | c.490 others(23): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133449500 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(223): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(219): Show | 226 | 276 | 0.8188 | -8 | c.730 others(23): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153500798 | TATGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0077 | a0001c0002t0077g0058 | 1 | 321 | 0.0031 | -8 | c.-11 others(25): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509051 | CTCTCTCT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG03834.hp2 HG04184.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0013a0001c0002t0031a0001c0003t0020others(1): Show | a0001c0002t0013g0004a0001c0002t0013g0127a0001c0002t0013g0163others(4): Show | 7 | 321 | 0.0218 | -8 | c.*61 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 610 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153509057 | CTTTCTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0148 | 1 | 321 | 0.0031 | -8 | c.*61 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 614 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153509061 | CTGTGTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02922.hp2 NA19060.hp1 |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0051a0001c0003t0090a0001c0006t0052 | a0001c0001t0051g0009a0001c0003t0090g0073a0001c0006t0052g0025 | 3 | 321 | 0.0094 | -8 | c.*65 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 654 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153512613 | ACACACAC others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG03831.hp2 NA20752.hp1 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0003a0001c0002t0019a0001c0014t0069 | a0001c0002t0003g0117a0001c0002t0019g0134a0001c0014t0069g0004 | 3 | 321 | 0.0094 | -8 | c.*41 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3068 | chrX | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275451 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0002 | a0001c0003t0006g0000a0001c0005t0002g0000 | 4 | 442 | 0.0091 | -8 | c.*41 others(19): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3637 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275485 | GGTGAGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 6 | 442 | 0.0136 | -8 | c.*42 others(19): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3671 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275790 | GGTGAGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 95 | 442 | 0.2149 | -8 | c.*45 others(19): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3976 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275830 | GTGAGTGT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(144): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000others(8): Show | 147 | 442 | 0.3326 | -8 | c.*45 others(19): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4016 | chr17 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4981185 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(94): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(16): Show | a0001c0001t0004g0031a0001c0001t0004g0038a0001c0001t0006g0006others(25): Show | 97 | 436 | 0.2225 | -8 | c.259 others(23): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4981211 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013a0001c0003t0035others(3): Show | a0001c0001t0013g0009a0001c0003t0013g0009a0001c0003t0035g0042others(3): Show | 7 | 436 | 0.0161 | -8 | c.259 others(23): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |