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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMTL_chrX_1398139_1457909 | 1431491 | CTACT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(26): Show |
a0000a0002a0004others(1): Show | a0000c0007a0000c0030a0000c0039others(5): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(5): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(26): Show | 29 | 185 | 0.1568 | -4 | c.509 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1431669 | ATAAT | A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0005 | 1 | 185 | 0.0054 | -4 | c.509 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1440077 | ATTTC | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(10): Show |
a0000a0001a0002others(3): Show | a0000c0043a0001c0008a0001c0013others(6): Show | a0000c0043t0001a0001c0008t0001a0001c0013t0001others(6): Show | a0000c0043t0001g0069a0001c0008t0001g0032a0001c0013t0001g0068others(10): Show | 13 | 185 | 0.0703 | -4 | c.226 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1445283 | CACAA | C | intron_variant | MODIFIER | HG00741.hp1 HG02723.hp2 HG02970.hp1 |
a0001a0002 | a0001c0042a0002c0003 | a0001c0042t0001a0002c0003t0001 | a0001c0042t0001g0005a0002c0003t0001g0006a0002c0003t0001g0009 | 3 | 185 | 0.0162 | -4 | c.94- others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1449953 | CCCCA | C | intron_variant | MODIFIER | NA18971.hp2 | a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0086 | 1 | 185 | 0.0054 | -4 | c.93+ others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1449961 | TCACC | T | intron_variant | MODIFIER | NA18971.hp2 | a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0086 | 1 | 185 | 0.0054 | -4 | c.93+ others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1456614 | TTTTG | T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02622.hp1 others(2): Show |
a0002a0003a0010others(1): Show | a0002c0015a0003c0002a0010c0041others(1): Show | a0002c0015t0001a0003c0002t0001a0010c0041t0001others(1): Show | a0002c0015t0001g0001a0003c0002t0001g0159a0010c0041t0001g0161others(1): Show | 5 | 185 | 0.0270 | -4 | c.-37 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3706 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1457745 | GTATC | G | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0067 | 1 | 185 | 0.0054 | -4 | c.-49 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4837 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613035 | CCTTT | C | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0139 | 1 | 223 | 0.0045 | -4 | c.-21 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2023 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613042 | TTTTC | T | upstream_gene_variant | MODIFIER | HG03453.hp1 NA18980.hp2 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0002c0002t0001g0002a0002c0002t0001g0220 | 3 | 223 | 0.0135 | -4 | c.-21 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2016 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613092 | CTTCT | C | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0202 | 1 | 223 | 0.0045 | -4 | c.-21 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1966 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613131 | CCTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(146): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0024others(145): Show | 149 | 223 | 0.6682 | -4 | c.-20 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1927 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613176 | CTTCT | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0118a0002c0002t0001g0208 | 2 | 223 | 0.0090 | -4 | c.-20 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1882 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1616172 | GCACC | G | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0175a0002c0002t0001g0189 | 3 | 223 | 0.0135 | -4 | c.69+ others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1620166 | CTTTT | C | intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 NA19030.hp1 |
a0002a0005 | a0002c0002a0002c0010a0005c0016 | a0002c0002t0001a0002c0010t0001a0005c0016t0001 | a0002c0002t0001g0122a0002c0010t0001g0010a0005c0016t0001g0045 | 3 | 223 | 0.0135 | -4 | c.70- others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625542 | AAGGG | A | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0070a0002c0002t0001g0175 | 2 | 223 | 0.0090 | -4 | c.374 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625954 | CAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0158 | 3 | 223 | 0.0135 | -4 | c.374 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1629006 | TCTGC | T | intron_variant | MODIFIER | HG02683.hp2 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0075 | 1 | 223 | 0.0045 | -4 | c.444 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1634320 | CCCAA | C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 223 | 0.0045 | -4 | c.787 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635861 | TCAAA | T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 223 | 0.0045 | -4 | c.788 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1646609 | CCCTT | C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG02886.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0046a0001c0001t0002g0120others(5): Show | 8 | 223 | 0.0359 | -4 | c.*35 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3529 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646958 | CTCTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp1 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0047others(53): Show | 56 | 223 | 0.2511 | -4 | c.*39 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3878 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647004 | CTTCT | C | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 223 | 0.0045 | -4 | c.*39 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3924 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647055 | CTTGT | C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 223 | 0.0045 | -4 | c.*40 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3975 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647160 | CCTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(83): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(83): Show | 86 | 223 | 0.3857 | -4 | c.*41 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4080 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTA | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01070.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0002t0001g0014others(3): Show | 18 | 340 | 0.0529 | -4 | c.-93 others(19): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTATA | G | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0036a0001c0001t0001g0098a0001c0001t0001g0101others(2): Show | 6 | 340 | 0.0177 | -4 | c.-93 others(19): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50507099 | ACCAC | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00639.hp1 others(60): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0007 | a0001c0001t0001a0003c0003t0001a0007c0007t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(5): Show | 63 | 372 | 0.1694 | -4 | c.*46 others(15): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 4503 | chr19 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGTGT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 109 | 372 | 0.2930 | -4 | c.*30 others(15): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50512016 | CAGAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp1 others(137): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(10): Show | 140 | 372 | 0.3763 | -4 | c.808 others(19): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50516427 | AAAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(132): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(6): Show | 135 | 372 | 0.3629 | -4 | c.-26 others(15): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2515 | chr19 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104101756 | ACCTC | A | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG02055.hp1 others(9): Show |
a0002 | a0002c0003a0002c0026 | a0002c0003t0002a0002c0003t0006a0002c0003t0018others(1): Show | a0002c0003t0002g0178a0002c0003t0006g0049a0002c0003t0006g0050others(6): Show | 12 | 368 | 0.0326 | -4 | c.641 others(21): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29897626 | TCTGA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(138): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(37): Show | 141 | 394 | 0.3579 | -4 | c.-33 others(15): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2861 | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26425748 | CTCTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(172): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 175 | 428 | 0.4089 | -4 | c.-39 others(15): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 3511 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26436841 | CATGT | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053a0001c0001t0005g0065a0001c0001t0005g0157others(7): Show | 11 | 428 | 0.0257 | -4 | c.886 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438486 | TATAG | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0014others(33): Show | 79 | 428 | 0.1846 | -4 | c.887 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438616 | TATAC | T | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0016 | a0001c0001t0002g0205a0001c0002t0003g0024a0001c0002t0016g0024 | 5 | 428 | 0.0117 | -4 | c.887 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438630 | TATAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0208a0001c0001t0002g0005a0001c0001t0002g0006others(32): Show | 62 | 428 | 0.1449 | -4 | c.887 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26446910 | TAGAG | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02523.hp1 NA18968.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0014a0001c0001t0001g0089a0001c0001t0001g0090others(1): Show | 7 | 428 | 0.0164 | -4 | c.*37 others(15): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1896 | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61500641 | TAAAC | T | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00735.hp2 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0015a0001c0001t0002g0040a0001c0001t0002g0058others(95): Show | 99 | 258 | 0.3837 | -4 | c.*27 others(15): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 25/25 | 2714 | chr8 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61505493 | CAAAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02132.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0032others(1): Show | a0001c0001t0001g0019a0001c0001t0004g0236a0001c0002t0032g0216others(2): Show | 5 | 258 | 0.0194 | -4 | c.212 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | GGTGT | G | intron_variant | MODIFIER | HG01928.hp2 HG02055.hp1 HG02615.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0003c0013a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0186a0001c0001t0001g0190others(19): Show | 22 | 258 | 0.0853 | -4 | c.176 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539808 | GTTGT | G | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0007a0004c0009t0031 | a0001c0001t0007g0184a0001c0001t0007g0185a0004c0009t0031g0253 | 3 | 258 | 0.0116 | -4 | c.176 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561071 | GGAGA | G | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178a0001c0001t0004g0219a0001c0001t0004g0220others(3): Show | 6 | 258 | 0.0233 | -4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561095 | GGAGA | G | intron_variant | MODIFIER | HG01256.hp2 HG01496.hp2 HG01993.hp2 others(28): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(7): Show | a0001c0001t0002g0143a0001c0001t0005g0140a0001c0002t0002g0021others(28): Show | 31 | 258 | 0.1202 | -4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61584632 | CTTCT | C | intron_variant | MODIFIER | HG00609.hp2 HG02055.hp2 HG02080.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0019a0001c0001t0002g0040a0001c0001t0002g0134others(9): Show | 12 | 258 | 0.0465 | -4 | c.977 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61590550 | CTGTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(56): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0018a0001c0001t0001g0057a0001c0001t0001g0062others(56): Show | 59 | 258 | 0.2287 | -4 | c.977 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61594712 | TCTTA | T | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0019a0001c0001t0002g0040a0001c0001t0007g0184others(4): Show | 7 | 258 | 0.0271 | -4 | c.977 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61620418 | GTTGA | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(202): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(201): Show | 205 | 258 | 0.7946 | -4 | c.935 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61621332 | AAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031others(85): Show | 88 | 258 | 0.3411 | -4 | c.935 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar |