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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMT_chrX_1610059_1648081 | 1630841 | C | CCCT | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 223 | 0.0045 | 3 | c.562 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1634653 | A | ACCC | intron_variant | MODIFIER | HG00639.hp1 HG02922.hp1 NA18985.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0002a0002c0002t0002others(2): Show | a0001c0001t0002g0168a0001c0003t0002g0182a0002c0002t0002g0172others(2): Show | 5 | 223 | 0.0224 | 3 | c.787 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635141 | A | ATTT | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 223 | 0.0045 | 3 | c.788 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635961 | T | TTTC | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 223 | 0.0045 | 3 | c.788 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(59): Show | 63 | 223 | 0.2825 | 3 | c.*12 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647128 | T | TTTC | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 223 | 0.0045 | 3 | c.*41 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4048 | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97861023 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0024others(72): Show | 132 | 436 | 0.3028 | 3 | c.488 others(20): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97876429 | A | ATTT | upstream_gene_variant | MODIFIER | HG02074.hp1 NA18964.hp2 NA18966.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0133others(1): Show | 9 | 436 | 0.0206 | 3 | c.-41 others(14): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4022 | chr7 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3490537 | G | GTGC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00642.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0218a0001c0001t0002g0142others(32): Show | 41 | 450 | 0.0911 | 3 | c.634 others(20): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPA_chr17_3470997_3508405 | 3491877 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0079a0001c0001t0001g0093a0001c0001t0001g0126others(18): Show | 21 | 450 | 0.0467 | 3 | c.635 others(20): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPA_chr17_3470997_3508405 | 3493560 | C | CAAA | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0369a0001c0001t0006g0217a0001c0001t0008g0327others(3): Show | 7 | 450 | 0.0156 | 3 | c.635 others(18): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50509103 | A | ATTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG02145.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(3): Show | 9 | 372 | 0.0242 | 3 | c.*26 others(14): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2499 | chr19 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50516671 | T | TAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(199): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(11): Show | 202 | 372 | 0.5430 | 3 | c.-28 others(14): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2759 | chr19 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104089947 | C | CAAA | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01074.hp2 others(34): Show |
a0002a0009 | a0002c0002a0002c0003a0002c0013others(1): Show | a0002c0002t0002a0002c0002t0013a0002c0003t0001others(6): Show | a0002c0002t0002g0004a0002c0002t0002g0018a0002c0002t0002g0045others(23): Show | 37 | 368 | 0.1005 | 3 | c.83- others(18): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29900594 | T | TAGG | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0015a0001c0001t0002g0028a0001c0001t0002g0056others(1): Show | 7 | 394 | 0.0178 | 3 | c.-37 others(12): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 372 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ASPHD1_chr16_29895488_29911056 | 29901481 | G | GGGT | disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(16): Show | 59 | 394 | 0.1498 | 3 | c.513 others(10): Show |
p.Gly others(6): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 1000/1816 | 516/1173 | 172/390 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
ASPHD1_chr16_29895488_29911056 | 29908683 | C | CTTT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0018others(1): Show | 7 | 394 | 0.0178 | 3 | c.*27 others(14): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2628 | chr16 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29910397 | A | AAAT | downstream_gene_variant | MODIFIER | HG03688.hp2 HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 394 | 0.0076 | 3 | c.*45 others(14): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 4342 | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0003g0015a0001c0001t0003g0032a0001c0001t0003g0148others(29): Show | 45 | 428 | 0.1051 | 3 | c.887 others(18): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TTAA | intron_variant | MODIFIER | HG00323.hp2 HG03239.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0035 | a0001c0001t0002g0057a0001c0001t0009g0057a0001c0001t0035g0207 | 3 | 428 | 0.0070 | 3 | c.887 others(18): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26444227 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0018a0001c0001t0022others(2): Show | a0001c0001t0006g0010a0001c0001t0006g0047a0001c0001t0006g0048others(11): Show | 24 | 428 | 0.0561 | 3 | c.*10 others(14): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 1035 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
ASPH_chr8_61495556_61719592 | 61497442 | T | TGGG | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0001g0049others(20): Show | 23 | 258 | 0.0892 | 3 | c.*59 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3113 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61499196 | A | AGAC | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01517.hp1 HG01884.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0001g0018a0001c0001t0007g0064a0001c0001t0007g0065others(14): Show | 17 | 258 | 0.0659 | 3 | c.*41 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1359 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61501139 | T | TAAC | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0034 | a0001c0001t0025g0189a0001c0001t0034g0257 | 2 | 258 | 0.0078 | 3 | c.*22 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 25/25 | 2219 | chr8 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61509136 | G | GAAA | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0021 | a0001c0001t0009g0012a0001c0001t0009g0077a0001c0001t0009g0142others(3): Show | 6 | 258 | 0.0233 | 3 | c.212 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61519676 | G | GGGA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(248): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(247): Show | 251 | 258 | 0.9729 | 3 | c.190 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61577399 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0047others(58): Show | 61 | 258 | 0.2364 | 3 | c.106 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61667365 | A | ATTT | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0073a0002c0003t0002g0074a0002c0003t0002g0075 | 3 | 258 | 0.0116 | 3 | c.322 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61706427 | A | AAAG | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178a0001c0001t0004g0252a0001c0001t0011g0250others(2): Show | 6 | 258 | 0.0233 | 3 | c.103 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197095767 | T | TGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0003a0001c0008others(34): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(164): Show | 237 | 296 | 0.8007 | 3 | c.898 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 19/27 | chr1 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82009639 | A | ACGT | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp1 HG02896.hp2 others(2): Show |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0001a0005c0009t0001 | a0002c0002t0001g0313a0005c0009t0001g0032a0005c0009t0001g0152others(1): Show | 5 | 366 | 0.0137 | 3 | c.117 others(18): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 9/15 | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82010087 | G | GTTT | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG02818.hp2 others(6): Show |
a0002a0011 | a0002c0002a0011c0019 | a0002c0002t0001a0011c0019t0001 | a0002c0002t0001g0049a0002c0002t0001g0065a0002c0002t0001g0066others(6): Show | 9 | 366 | 0.0246 | 3 | c.117 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPSCR1_chr17_81972629_82022406 | 82018361 | C | CCTT | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(4): Show |
a0004a0005 | a0004c0010a0004c0015a0005c0009 | a0004c0010t0001a0004c0015t0001a0005c0009t0001 | a0004c0010t0001g0148a0004c0010t0001g0154a0004c0010t0001g0157others(3): Show | 7 | 366 | 0.0191 | 3 | c.*10 others(14): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 956 | chr17 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62343377 | C | CAAA | intron_variant | MODIFIER | HG02135.hp2 HG02486.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0003g0123a0001c0001t0003g0136a0001c0001t0004g0023others(5): Show | 8 | 370 | 0.0216 | 3 | c.190 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62346808 | A | AAGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(11): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0003g0004others(85): Show | 88 | 370 | 0.2378 | 3 | c.190 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62358371 | G | GAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0042a0001c0001t0003g0004a0001c0001t0003g0005others(76): Show | 79 | 370 | 0.2135 | 3 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362891 | A | ATTT | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0266a0001c0001t0007g0316a0001c0001t0007g0323others(3): Show | 6 | 370 | 0.0162 | 3 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62364158 | C | CAAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0143a0001c0001t0003g0167a0001c0001t0003g0170others(9): Show | 12 | 370 | 0.0324 | 3 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62383602 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0017 | a0001c0001t0004g0023a0001c0001t0004g0024a0001c0001t0004g0025others(11): Show | 14 | 370 | 0.0378 | 3 | c.492 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62395759 | C | CTTT | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01934.hp1 HG02027.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0001t0027others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0043others(18): Show | 21 | 370 | 0.0568 | 3 | c.*34 others(14): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2348 | chr11 | TogoVar | ||||||
ASTE1_chr3_131008875_131031825 | 131012260 | C | CTTT | downstream_gene_variant | MODIFIER | NA18966.hp2 NA18984.hp2 NA19062.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0086 | 7 | 404 | 0.0173 | 3 | c.*17 others(14): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 1614 | chr3 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176860609 | A | ATTT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0030a0003c0010t0006g0031a0003c0010t0006g0038others(2): Show | 5 | 112 | 0.0446 | 3 | c.*36 others(14): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 457 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176913512 | A | AGCT | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0012 | a0001c0002t0002a0001c0005t0005a0001c0012t0005 | a0001c0002t0002g0084a0001c0005t0005g0059a0001c0005t0005g0102others(1): Show | 4 | 112 | 0.0357 | 3 | c.267 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176922556 | C | CAAA | intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0003t0002a0001c0005t0005others(1): Show | a0001c0002t0002g0108a0001c0003t0002g0067a0001c0005t0005g0059others(3): Show | 6 | 112 | 0.0536 | 3 | c.267 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176981211 | C | CAAA | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG03579.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0002a0001c0005t0004 | a0001c0002t0002g0019a0001c0002t0002g0032a0001c0002t0002g0070others(4): Show | 7 | 112 | 0.0625 | 3 | c.152 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176988316 | G | GAAA | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(19): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0011a0001c0002t0015a0001c0002t0020others(9): Show | a0001c0002t0011g0009a0001c0002t0015g0039a0001c0002t0020g0007others(19): Show | 22 | 112 | 0.1964 | 3 | c.152 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177036036 | C | CTTT | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0011 | a0001c0002t0002a0001c0005t0004a0001c0005t0005others(1): Show | a0001c0002t0002g0053a0001c0005t0004g0076a0001c0005t0004g0077others(3): Show | 6 | 112 | 0.0536 | 3 | c.472 others(20): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177076278 | C | CAAA | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0002g0068a0001c0003t0001g0002a0001c0003t0002g0100others(5): Show | 8 | 112 | 0.0714 | 3 | c.284 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177118226 | G | GATA | intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0007a0001c0005t0004others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0002t0007g0069others(3): Show | 6 | 112 | 0.0536 | 3 | c.283 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177157294 | T | TTTG | intron_variant | MODIFIER | HG01071.hp1 HG01993.hp1 HG03041.hp1 |
a0002 | a0002c0004a0002c0014 | a0002c0004t0003a0002c0014t0009 | a0002c0004t0003g0060a0002c0004t0003g0061a0002c0014t0009g0078 | 3 | 112 | 0.0268 | 3 | c.283 others(20): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar |