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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMBP_chr9_114055127_114083300 | 114066376 | C | CGT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0173a0001c0001t0001g0189others(1): Show | 7 | 454 | 0.0154 | 2 | c.603 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114073493 | G | GTT | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01261.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0081a0001c0001t0001g0160a0001c0001t0001g0169others(10): Show | 18 | 454 | 0.0397 | 2 | c.455 others(17): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46399928 | G | GCT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(101): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(101): Show | 104 | 160 | 0.6500 | 2 | c.340 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTT | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0061others(9): Show | 12 | 160 | 0.0750 | 2 | c.340 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46421136 | T | TAG | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101a0001c0002t0002g0102a0001c0002t0002g0110others(9): Show | 12 | 160 | 0.0750 | 2 | c.297 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTG | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01361.hp1 others(8): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0048a0001c0001t0001g0078a0001c0001t0001g0123others(8): Show | 11 | 160 | 0.0688 | 2 | c.297 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46426070 | T | TAA | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0130a0001c0001t0001g0131others(4): Show | 7 | 160 | 0.0438 | 2 | c.297 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46441374 | T | TGG | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0016others(4): Show | 7 | 160 | 0.0438 | 2 | c.263 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 12/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | T | TAC | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01081.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(40): Show | 43 | 160 | 0.2688 | 2 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46470588 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01981.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(24): Show | 27 | 160 | 0.1688 | 2 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46478648 | C | CTT | intron_variant | MODIFIER | HG01192.hp2 HG01515.hp2 HG01981.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0004c0006t0001 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0067others(14): Show | 17 | 160 | 0.1063 | 2 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46483008 | C | CAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 2 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46507176 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(19): Show | 22 | 160 | 0.1375 | 2 | c.233 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46516423 | C | CTT | intron_variant | MODIFIER | HG01192.hp2 HG03654.hp2 HG03688.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(8): Show | 11 | 160 | 0.0688 | 2 | c.207 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46545161 | C | CGG | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01243.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(18): Show | 21 | 160 | 0.1313 | 2 | c.551 others(17): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 5/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0036a0001c0001t0001g0062others(18): Show | 21 | 160 | 0.1313 | 2 | c.-12 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46553744 | C | CAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 2 | c.-12 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46563842 | C | CAA | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0004 | a0001c0001t0001g0106a0001c0003t0001g0004a0001c0003t0001g0005others(5): Show | 8 | 160 | 0.0500 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46568772 | C | CAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46570261 | C | CAA | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02602.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0023a0001c0001t0001g0032a0001c0001t0001g0036others(10): Show | 13 | 160 | 0.0813 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46579045 | T | TAA | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0130a0001c0001t0001g0131others(4): Show | 7 | 160 | 0.0438 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46579045 | T | TTA | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034a0001c0001t0001g0073a0001c0001t0001g0074others(3): Show | 6 | 160 | 0.0375 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46583652 | C | CAA | intron_variant | MODIFIER | HG01361.hp1 HG01981.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0036a0001c0001t0001g0051a0001c0001t0001g0068others(3): Show | 6 | 160 | 0.0375 | 2 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46591941 | A | ATT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp2 others(15): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(15): Show | 18 | 160 | 0.1125 | 2 | c.-12 others(21): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110892723 | T | TCC | intron_variant | MODIFIER | HG01515.hp1 HG02109.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0059a0001c0001t0001g0119a0001c0001t0004g0019others(1): Show | 8 | 394 | 0.0203 | 2 | c.616 others(15): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110897443 | T | TTG | downstream_gene_variant | MODIFIER | HG00558.hp2 NA18954.hp2 NA18955.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0002g0001a0001c0001t0002g0026 | 8 | 394 | 0.0203 | 2 | c.*38 others(13): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1731 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110898194 | A | AAG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00733.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0029 | 18 | 394 | 0.0457 | 2 | c.*45 others(13): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2482 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110898198 | G | GAT | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03017.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0070others(2): Show | 6 | 394 | 0.0152 | 2 | c.*45 others(13): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2486 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110899071 | C | CTT | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01175.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(10): Show | 18 | 394 | 0.0457 | 2 | c.*54 others(13): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 3359 | chr6 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95942382 | T | TGG | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01516.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003 | a0001c0001t0007g0116a0001c0001t0007g0138a0001c0002t0003g0292others(2): Show | 5 | 404 | 0.0124 | 2 | c.-10 others(13): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 948 | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0014others(30): Show | 41 | 404 | 0.1015 | 2 | c.137 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTG | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0118a0001c0001t0001g0119others(10): Show | 13 | 404 | 0.0322 | 2 | c.137 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95959065 | G | GAA | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01496.hp2 others(15): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0014 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0118a0001c0001t0001g0119others(13): Show | 18 | 404 | 0.0446 | 2 | c.588 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95959790 | C | CTT | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00735.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0037a0001c0001t0001g0127others(41): Show | 50 | 404 | 0.1238 | 2 | c.588 others(17): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95962270 | A | AAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(324): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(240): Show | 327 | 404 | 0.8094 | 2 | c.814 others(15): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAA | intron_variant | MODIFIER | HG00423.hp2 HG01167.hp2 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0002 | a0001c0001t0001g0026a0001c0001t0001g0118a0001c0001t0001g0119others(10): Show | 14 | 404 | 0.0347 | 2 | c.939 others(17): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95969741 | C | CTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(199): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(148): Show | 202 | 404 | 0.5000 | 2 | c.*18 others(13): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1022 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTG | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 18 | 318 | 0.0566 | 2 | c.-27 others(13): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2521765 | T | TTG | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02451.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0003g0009a0001c0001t0003g0028a0001c0001t0003g0032others(9): Show | 28 | 318 | 0.0881 | 2 | c.360 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2522844 | C | CTT | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0083a0001c0002t0002g0006a0001c0002t0002g0030 | 12 | 318 | 0.0377 | 2 | c.360 others(19): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2525366 | C | CTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011 | a0001c0001t0003g0009a0001c0001t0003g0036a0001c0001t0010g0082others(1): Show | 9 | 318 | 0.0283 | 2 | c.361 others(19): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATT | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG03195.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(7): Show | 13 | 318 | 0.0409 | 2 | c.*38 others(13): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11304777 | C | CTT | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(5): Show | 11 | 300 | 0.0367 | 2 | c.*41 others(13): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 4017 | chrX | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6877964 | T | TTG | intron_variant | MODIFIER | HG02647.hp1 HG03490.hp1 HG03492.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0013others(5): Show | 10 | 131 | 0.0763 | 2 | c.-11 others(21): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6888867 | C | CAA | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG02027.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0033others(11): Show | 16 | 131 | 0.1221 | 2 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6897599 | G | GTT | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 131 | 0.0076 | 2 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6900844 | C | CTT | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01928.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0020others(7): Show | 10 | 131 | 0.0763 | 2 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6907304 | T | TTC | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 131 | 0.0076 | 2 | c.-11 others(21): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6908456 | C | CAA | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0092 | 2 | 131 | 0.0153 | 2 | c.-11 others(21): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6912829 | C | CAA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03471.hp1 NA18944.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0058others(2): Show | 5 | 131 | 0.0382 | 2 | c.-12 others(13): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1078 | chrY | TogoVar |