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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAALC_chr8_103135725_103235305 | 103171231 | CAGAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(162): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0044others(142): Show | 165 | 332 | 0.4970 | -4 | c.160 others(23): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103171467 | AAAAG | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0008a0001c0005t0023others(1): Show | a0001c0001t0001g0017a0001c0001t0008g0261a0001c0005t0023g0038others(1): Show | 8 | 332 | 0.0241 | -4 | c.160 others(23): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103192533 | TAGTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01243.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0037a0001c0001t0001g0102a0001c0001t0001g0104others(18): Show | 23 | 332 | 0.0693 | -4 | c.161 others(23): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103199527 | AATTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0009 | a0001c0001t0001g0062a0001c0001t0001g0169a0001c0003t0009g0259 | 3 | 332 | 0.0090 | -4 | c.161 others(23): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103203812 | CTTTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01243.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037a0001c0001t0001g0102a0001c0001t0001g0104others(16): Show | 21 | 332 | 0.0633 | -4 | c.161 others(21): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103216464 | TATTA | T | intron_variant | MODIFIER | HG02486.hp1 NA19240.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0131a0002c0002t0003g0283a0002c0002t0003g0291 | 3 | 332 | 0.0090 | -4 | c.327 others(21): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103223315 | AAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0003g0028a0001c0001t0003g0029a0001c0001t0003g0036others(23): Show | 30 | 332 | 0.0904 | -4 | c.328 others(21): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAALC_chr8_103135725_103235305 | 103224115 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(58): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0102a0001c0001t0001g0104others(52): Show | 61 | 332 | 0.1837 | -4 | c.328 others(21): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAAT_chr9_101355417_101390006 | 101359677 | TAAAC | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0004a0001c0001t0008a0002c0002t0015others(11): Show | a0001c0001t0004g0031a0001c0001t0008g0025a0001c0001t0008g0169others(39): Show | 87 | 418 | 0.2081 | -4 | c.*27 others(15): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 739 | chr9 | TogoVar | ||||||
BAAT_chr9_101355417_101390006 | 101367112 | AAAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01169.hp2 others(21): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0024 | a0003c0003t0003g0004a0003c0003t0003g0110a0003c0003t0003g0148others(5): Show | 24 | 418 | 0.0574 | -4 | c.669 others(21): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
BAAT_chr9_101355417_101390006 | 101369290 | TAATA | T | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01884.hp1 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0006a0003c0003t0004g0085a0003c0003t0004g0140others(3): Show | 18 | 418 | 0.0431 | -4 | c.467 others(19): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
BAAT_chr9_101355417_101390006 | 101370320 | CTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01169.hp2 others(24): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0023a0003c0003t0024 | a0003c0003t0003g0004a0003c0003t0003g0018a0003c0003t0003g0110others(5): Show | 27 | 418 | 0.0646 | -4 | c.466 others(19): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
BABAM1_chr19_17262443_17284337 | 17277170 | TCTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(76): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0016others(36): Show | 79 | 424 | 0.1863 | -4 | c.786 others(19): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BABAM1_chr19_17262443_17284337 | 17280981 | CAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(43): Show | 91 | 424 | 0.2146 | -4 | c.*19 others(15): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 1645 | chr19 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27898666 | CTAAG | C | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0122a0001c0001t0003g0121 | 2 | 158 | 0.0127 | -4 | c.128 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27898752 | CAGAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0038others(1): Show | 4 | 158 | 0.0253 | -4 | c.128 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27904614 | AAGAC | A | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0016 | 3 | 158 | 0.0190 | -4 | c.128 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27912566 | TATAG | T | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0107a0001c0001t0003g0106 | 2 | 158 | 0.0127 | -4 | c.129 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27921379 | CATTT | C | intron_variant | MODIFIER | HG03209.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089a0001c0001t0003g0090 | 2 | 158 | 0.0127 | -4 | c.129 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27936957 | CAAAT | C | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0138others(9): Show | 12 | 158 | 0.0760 | -4 | c.205 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27942791 | AATTT | A | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0088a0001c0001t0001g0091a0001c0001t0004g0118 | 3 | 158 | 0.0190 | -4 | c.205 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28013694 | TACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(15): Show | 18 | 158 | 0.1139 | -4 | c.301 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28020952 | GACAC | G | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0002g0006a0001c0001t0002g0010others(3): Show | 6 | 158 | 0.0380 | -4 | c.301 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28037511 | TAATA | T | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0107a0001c0001t0003g0106 | 2 | 158 | 0.0127 | -4 | c.496 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28075528 | TTCTC | T | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0088others(10): Show | 13 | 158 | 0.0823 | -4 | c.570 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28076458 | ATATT | A | intron_variant | MODIFIER | HG01192.hp1 HG02559.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(3): Show | 6 | 158 | 0.0380 | -4 | c.570 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28076481 | TTTAG | T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(16): Show | 19 | 158 | 0.1203 | -4 | c.570 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28093796 | CAGTT | C | intron_variant | MODIFIER | HG02074.hp1 HG02165.hp2 HG02602.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0066a0001c0001t0001g0111a0001c0001t0001g0125others(8): Show | 11 | 158 | 0.0696 | -4 | c.571 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112147 | TTACC | T | intron_variant | MODIFIER | HG03516.hp1 HG03540.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0076a0001c0001t0002g0108others(1): Show | 4 | 158 | 0.0253 | -4 | c.571 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28115182 | AACAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0142a0001c0001t0002g0101a0001c0001t0002g0147others(2): Show | 5 | 158 | 0.0317 | -4 | c.571 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28128871 | AAGGT | A | intron_variant | MODIFIER | HG01168.hp2 HG02074.hp1 HG02165.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014others(12): Show | 15 | 158 | 0.0949 | -4 | c.571 others(19): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28145208 | CACAG | C | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | 158 | 0.0253 | -4 | c.680 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28160757 | TAAAG | T | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135a0001c0001t0003g0136 | 2 | 158 | 0.0127 | -4 | c.680 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28167697 | AAAAT | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014others(32): Show | 35 | 158 | 0.2215 | -4 | c.680 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28176854 | AAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0052others(12): Show | 15 | 158 | 0.0949 | -4 | c.680 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28200758 | TTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(101): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0025others(101): Show | 104 | 158 | 0.6582 | -4 | c.681 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28208029 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(83): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0017others(83): Show | 86 | 158 | 0.5443 | -4 | c.681 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28221111 | CCTCT | C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0001g0044a0001c0001t0001g0045others(12): Show | 15 | 158 | 0.0949 | -4 | c.681 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28231785 | CTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0043a0001c0001t0001g0075a0001c0001t0001g0157others(3): Show | 6 | 158 | 0.0380 | -4 | c.681 others(21): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28244459 | CTTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(85): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0031others(85): Show | 88 | 158 | 0.5570 | -4 | c.852 others(19): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28263144 | AAAAG | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(4): Show | 7 | 158 | 0.0443 | -4 | c.934 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28267167 | GGAAA | G | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018a0001c0001t0003g0019 | 2 | 158 | 0.0127 | -4 | c.934 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28276286 | TTCTC | T | intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0016a0001c0001t0002g0112 | 3 | 158 | 0.0190 | -4 | c.935 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28315023 | GGAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(120): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(120): Show | 123 | 158 | 0.7785 | -4 | c.108 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28326927 | TATTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(152): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(152): Show | 155 | 158 | 0.9810 | -4 | c.108 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41198849 | TTTTA | T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0165a0001c0001t0002g0149a0001c0001t0002g0179others(9): Show | 12 | 272 | 0.0441 | -4 | c.313 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41259802 | CTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017 | a0001c0001t0014g0003a0001c0001t0014g0177a0001c0001t0014g0250others(2): Show | 5 | 272 | 0.0184 | -4 | c.130 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41266153 | CTTCT | C | intron_variant | MODIFIER | NA18980.hp1 NA19082.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0025a0001c0004t0025 | a0001c0002t0025g0144a0001c0004t0025g0082 | 2 | 272 | 0.0074 | -4 | c.130 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41266946 | TTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(137): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0165a0001c0001t0001g0226a0001c0001t0001g0234others(137): Show | 140 | 272 | 0.5147 | -4 | c.130 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41286119 | TATAG | T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01167.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0260a0001c0001t0003g0060a0001c0001t0003g0083others(40): Show | 43 | 272 | 0.1581 | -4 | c.*10 others(17): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3590 | chr21 | TogoVar |