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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALT5_chr20_49627945_49718878 | 49664421 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01192.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0006a0001c0001t0021a0001c0002t0001others(3): Show | a0001c0001t0006g0175a0001c0001t0021g0185a0001c0002t0001g0207others(7): Show | 10 | 364 | 0.0275 | 8 | c.116 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31618750 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0254a0001c0001t0002g0258a0001c0001t0004g0011others(2): Show | 6 | 306 | 0.0196 | 8 | c.*68 others(19): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3495 | chr18 | TogoVar | ||||||
B4GAT1_chr11_66340374_66352629 | 66342056 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0003g0005a0001c0001t0005g0011 | 8 | 412 | 0.0194 | 8 | c.*39 others(19): Show |
B4GAT1 | ENSG00000174684.7 | transcript | ENST00000311181.5 | protein_coding | 3317 | chr11 | TogoVar | ||||||
BABAM1_chr19_17262443_17284337 | 17273564 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0055a0001c0001t0001g0128others(4): Show | 14 | 424 | 0.0330 | 8 | c.345 others(23): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BABAM1_chr19_17262443_17284337 | 17273564 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01981.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0067a0001c0001t0001g0073others(11): Show | 16 | 424 | 0.0377 | 8 | c.345 others(23): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27942791 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(76): Show | 79 | 158 | 0.5000 | 8 | c.205 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27982844 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0004others(2): Show | 5 | 158 | 0.0317 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27983942 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0046a0001c0001t0002g0047others(3): Show | 6 | 158 | 0.0380 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27985057 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0017others(7): Show | 10 | 158 | 0.0633 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28013694 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0153others(10): Show | 13 | 158 | 0.0823 | 8 | c.301 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28020952 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02155.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0001g0057a0001c0001t0001g0099others(8): Show | 11 | 158 | 0.0696 | 8 | c.301 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28026867 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015 | 3 | 158 | 0.0190 | 8 | c.495 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112083 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0001t0001g0041others(15): Show | 18 | 158 | 0.1139 | 8 | c.571 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075a0001c0001t0001g0088a0001c0001t0002g0064others(3): Show | 6 | 158 | 0.0380 | 8 | c.680 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28183739 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0073a0001c0001t0001g0113others(9): Show | 12 | 158 | 0.0760 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28183739 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02630.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(3): Show | 6 | 158 | 0.0380 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28196321 | C | CGTCTCAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02040.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0080a0001c0001t0001g0157 | 3 | 158 | 0.0190 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28200758 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0044others(23): Show | 26 | 158 | 0.1646 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28211386 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0040a0001c0001t0001g0059a0001c0001t0001g0078others(13): Show | 16 | 158 | 0.1013 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28258615 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02027.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0086a0001c0001t0001g0124others(2): Show | 5 | 158 | 0.0317 | 8 | c.934 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BACE1_chr11_117280698_117321256 | 117309537 | G | GGCAACAG others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(2): Show | a0001c0001t0001g0073a0001c0001t0029g0075a0001c0002t0001g0071others(3): Show | 6 | 400 | 0.0150 | 8 | c.261 others(25): Show |
BACE1 | ENSG00000186318.18 | transcript | ENST00000313005.11 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41198849 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01257.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0007a0001c0001t0002g0148a0001c0001t0003g0013others(23): Show | 26 | 272 | 0.0956 | 8 | c.313 others(27): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41286119 | T | TATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 HG02630.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0030others(1): Show | a0001c0001t0004g0023a0001c0001t0005g0161a0001c0001t0005g0162others(2): Show | 5 | 272 | 0.0184 | 8 | c.*10 others(21): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3590 | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29306169 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02273.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0002g0048a0001c0001t0002g0225a0001c0001t0002g0226others(4): Show | 8 | 368 | 0.0217 | 8 | c.-61 others(25): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH1_chr21_29293922_29351148 | 29307407 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18906.hp1 NA18972.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0010 | a0001c0001t0007g0237a0001c0001t0007g0240a0001c0001t0007g0241others(6): Show | 9 | 368 | 0.0245 | 8 | c.-61 others(25): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH1_chr21_29293922_29351148 | 29324556 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02083.hp2 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149a0001c0001t0003g0164a0001c0001t0003g0165others(3): Show | 6 | 368 | 0.0163 | 8 | c.235 others(25): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH2_chr6_89921528_90301843 | 89930114 | G | GACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0056a0001c0003t0094 | a0001c0001t0056g0162a0001c0003t0094g0059 | 2 | 194 | 0.0103 | 8 | c.*22 others(19): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2293 | chr6 | TogoVar | |||||
BACH2_chr6_89921528_90301843 | 89959097 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02155.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0017a0001c0001t0067a0001c0005t0005others(1): Show | a0001c0001t0017g0035a0001c0001t0067g0042a0001c0005t0005g0095others(2): Show | 5 | 194 | 0.0258 | 8 | c.244 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89997005 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02615.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0089a0001c0004t0016a0001c0004t0066 | a0001c0001t0089g0084a0001c0004t0016g0079a0001c0004t0066g0027 | 3 | 194 | 0.0155 | 8 | c.243 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90011932 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0026a0001c0001t0071others(8): Show | a0001c0001t0001g0139a0001c0001t0026g0173a0001c0001t0071g0070others(8): Show | 11 | 194 | 0.0567 | 8 | c.-12 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90014420 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0120a0001c0001t0135a0001c0002t0004others(2): Show | a0001c0001t0120g0131a0001c0001t0135g0193a0001c0002t0004g0082others(2): Show | 5 | 194 | 0.0258 | 8 | c.-12 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90046921 | A | ATTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0002g0033others(72): Show | 75 | 194 | 0.3866 | 8 | c.-12 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90094861 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0070a0001c0002t0061a0001c0003t0036others(1): Show | a0001c0001t0070g0147a0001c0002t0061g0026a0001c0003t0036g0068others(1): Show | 4 | 194 | 0.0206 | 8 | c.-16 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90158428 | T | TGGGTAGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01256.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0021others(14): Show | a0001c0001t0001g0100a0001c0001t0001g0139a0001c0001t0001g0141others(16): Show | 19 | 194 | 0.0979 | 8 | c.-16 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90180860 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0071others(6): Show | a0001c0001t0001g0141a0001c0001t0021g0101a0001c0001t0071g0070others(6): Show | 9 | 194 | 0.0464 | 8 | c.-16 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90211588 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02165.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0118a0001c0003t0109a0001c0005t0010 | a0001c0001t0118g0115a0001c0003t0109g0056a0001c0005t0010g0138 | 3 | 194 | 0.0155 | 8 | c.-27 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90218920 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02922.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0007a0001c0002t0020a0001c0002t0097others(1): Show | a0001c0001t0007g0088a0001c0002t0020g0157a0001c0002t0097g0109others(1): Show | 4 | 194 | 0.0206 | 8 | c.-27 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90244622 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 NA18906.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0029a0002c0007t0028a0002c0007t0030 | a0001c0004t0029g0003a0002c0007t0028g0002a0002c0007t0030g0001 | 3 | 194 | 0.0155 | 8 | c.-27 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64270975 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02145.hp1 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0136a0001c0001t0001g0152a0001c0001t0001g0157others(1): Show | 4 | 388 | 0.0103 | 8 | c.378 others(23): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64271087 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0019others(87): Show | 105 | 388 | 0.2706 | 8 | c.378 others(23): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64271207 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0135a0001c0001t0001g0136others(14): Show | 18 | 388 | 0.0464 | 8 | c.378 others(23): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64271294 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18970.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0038a0001c0001t0003g0057 | 3 | 388 | 0.0077 | 8 | c.378 others(23): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64271381 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18944.hp1 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(1): Show | 4 | 388 | 0.0103 | 8 | c.378 others(23): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675761 | T | TTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(30): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0078a0001c0001t0001g0133others(28): Show | 33 | 420 | 0.0786 | 8 | c.910 others(23): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BAG3_chr10_119646380_119682819 | 119678707 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00738.hp1 others(57): Show |
a0001a0003a0013 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0011a0001c0001t0003g0023a0001c0001t0003g0029others(49): Show | 60 | 420 | 0.1429 | 8 | c.*14 others(19): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 889 | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119678724 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01993.hp2 NA18612.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0019 | a0001c0001t0004a0002c0003t0002a0002c0019t0006 | a0001c0001t0004g0234a0002c0003t0002g0019a0002c0003t0002g0028others(4): Show | 8 | 420 | 0.0191 | 8 | c.*14 others(19): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 906 | chr10 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38179533 | A | AGCACTTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02300.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0276a0001c0001t0001g0277 | 3 | 306 | 0.0098 | 8 | c.270 others(25): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAG4_chr8_38171855_38218301 | 38214265 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 NA18941.hp2 homoSapiens_chm13v2.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0001c0001t0005a0005c0006t0001 | a0001c0001t0004g0144a0001c0001t0005g0199a0005c0006t0001g0164 | 3 | 306 | 0.0098 | 8 | c.*37 others(19): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 965 | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38214267 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0124a0001c0001t0001g0169a0001c0001t0001g0253others(8): Show | 11 | 306 | 0.0360 | 8 | c.*37 others(19): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 967 | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38214269 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0228a0001c0001t0001g0234a0001c0001t0003g0204others(5): Show | 8 | 306 | 0.0261 | 8 | c.*37 others(19): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 969 | chr8 | TogoVar |