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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGRN_chr1_1015120_1061116 | 1039411 | T | TGGG | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01123.hp1 others(31): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0006a0001c0007others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0005others(19): Show | a0001c0001t0001g0100a0001c0001t0001g0118a0001c0006t0001g0165others(30): Show | 34 | 210 | 0.1619 | 3 | c.512 others(20): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGRP_chr16_67477571_67488547 | 67479213 | A | ATTT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(24): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0002a0002c0003t0001g0005 | 27 | 256 | 0.1055 | 3 | c.*34 others(14): Show |
AGRP | ENSG00000159723.5 | transcript | ENST00000290953.3 | protein_coding | 3357 | chr16 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85551103 | C | CCAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(132): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 135 | 302 | 0.4470 | 3 | c.350 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0001g0104a0001c0001t0001g0105others(15): Show | 18 | 302 | 0.0596 | 3 | c.350 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85579409 | A | ATTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0225a0001c0002t0003g0285a0001c0002t0003g0286others(5): Show | 8 | 302 | 0.0265 | 3 | c.316 others(20): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 23/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85609855 | G | GATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 154 | 302 | 0.5099 | 3 | c.233 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85625904 | G | GTTT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01168.hp1 others(30): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0041others(30): Show | 33 | 302 | 0.1093 | 3 | c.201 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85625908 | T | TTTG | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG02896.hp1 others(10): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0019others(10): Show | 13 | 302 | 0.0431 | 3 | c.201 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85672732 | A | ATTT | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 HG02132.hp2 others(7): Show |
a0001a0006a0010 | a0001c0001a0006c0007a0010c0005 | a0001c0001t0001a0001c0001t0002a0006c0007t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0027others(7): Show | 10 | 302 | 0.0331 | 3 | c.437 others(16): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 6/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85681745 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG01978.hp1 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0022others(11): Show | 14 | 302 | 0.0464 | 3 | c.158 others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85682172 | T | TAAA | intron_variant | MODIFIER | HG01975.hp1 HG02280.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0056others(10): Show | 13 | 302 | 0.0431 | 3 | c.158 others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85691531 | A | AAAG | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01261.hp2 others(51): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0004a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(51): Show | 54 | 302 | 0.1788 | 3 | c.157 others(20): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85698091 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01433.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0211a0001c0001t0002g0212a0001c0001t0002g0213others(4): Show | 7 | 302 | 0.0232 | 3 | c.33- others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85698679 | C | CTTT | intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0084others(3): Show | 6 | 302 | 0.0199 | 3 | c.33- others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85710676 | T | TACA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp1 others(17): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0082a0001c0001t0001g0133a0001c0001t0001g0139others(17): Show | 20 | 302 | 0.0662 | 3 | c.32+ others(18): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85726286 | G | GTTA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0285a0001c0002t0003g0286a0001c0002t0003g0287others(5): Show | 8 | 302 | 0.0265 | 3 | c.-33 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148704366 | G | GAAT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00642.hp1 others(166): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0042others(117): Show | 169 | 350 | 0.4829 | 3 | c.-13 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGTR1_chr3_148692903_148748003 | 148709955 | G | GGTA | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0215a0001c0001t0002g0071a0001c0001t0002g0072others(1): Show | 4 | 350 | 0.0114 | 3 | c.-48 others(20): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGTR1_chr3_148692903_148748003 | 148729013 | C | CAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(337): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0014others(240): Show | 340 | 350 | 0.9714 | 3 | c.-47 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGTR2_chrX_116165744_116179974 | 116171235 | G | GTTT | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 332 | 0.0030 | 3 | c.-36 others(18): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(3): Show | 12 | 456 | 0.0263 | 3 | c.-46 others(14): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35014452 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0199a0001c0001t0001g0208a0001c0001t0003g0362others(3): Show | 6 | 384 | 0.0156 | 3 | c.964 others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35015849 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG03098.hp1 others(4): Show |
a0002a0005a0017 | a0002c0002a0002c0021a0005c0005others(1): Show | a0002c0002t0004a0002c0021t0004a0005c0005t0002others(1): Show | a0002c0002t0004g0067a0002c0002t0004g0069a0002c0002t0004g0070others(4): Show | 7 | 384 | 0.0182 | 3 | c.964 others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35035602 | G | GGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0003a0001c0034others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0015a0001c0001t0001g0123a0001c0001t0001g0124others(307): Show | 323 | 384 | 0.8412 | 3 | c.487 others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240864865 | C | CTTT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp2 others(15): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0016 | a0001c0001t0003a0001c0001t0013a0003c0004t0006others(1): Show | a0001c0001t0003g0040a0001c0001t0013g0033a0003c0004t0006g0011others(4): Show | 18 | 444 | 0.0405 | 3 | c.-40 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3958 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240865035 | A | ATTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0008a0005c0005t0011a0005c0005t0016 | a0001c0001t0008g0019a0005c0005t0011g0023a0005c0005t0011g0076others(1): Show | 6 | 444 | 0.0135 | 3 | c.-38 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3788 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0004g0008others(2): Show | 12 | 444 | 0.0270 | 3 | c.*17 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01106.hp2 others(4): Show |
a0001a0019 | a0001c0001a0019c0018 | a0001c0001t0002a0019c0018t0020 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0067others(3): Show | 7 | 444 | 0.0158 | 3 | c.*48 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01255.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0015others(6): Show | a0001c0001t0001g0195a0001c0004t0002g0022a0001c0004t0002g0327others(8): Show | 11 | 376 | 0.0293 | 3 | c.*58 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246842867 | A | ACTG | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp2 others(90): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0020others(8): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0010others(9): Show | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0315others(89): Show | 93 | 376 | 0.2473 | 3 | c.652 others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 34/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG02071.hp1 HG02071.hp2 others(4): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0024 | a0001c0001t0001a0002c0002t0001a0002c0002t0017others(1): Show | a0001c0001t0001g0211a0001c0001t0001g0262a0002c0002t0001g0011others(4): Show | 7 | 376 | 0.0186 | 3 | c.334 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246872051 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02615.hp1 others(12): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(6): Show | a0001c0001t0001g0169a0001c0001t0014g0003a0001c0001t0023g0374others(12): Show | 15 | 376 | 0.0399 | 3 | c.308 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp2 others(76): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0010a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0139others(76): Show | 79 | 376 | 0.2101 | 3 | c.266 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246885341 | T | TTTG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042a0001c0001t0004g0363a0001c0001t0004g0364others(8): Show | 11 | 376 | 0.0293 | 3 | c.266 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246910784 | A | AGAG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(259): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0007others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0046others(258): Show | 262 | 376 | 0.6968 | 3 | c.556 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246920142 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00621.hp1 others(88): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0010a0001c0026others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0010t0001others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0175others(87): Show | 91 | 376 | 0.2420 | 3 | c.-7- others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246924868 | G | GGGT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(234): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0010others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(38): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0133others(233): Show | 237 | 376 | 0.6303 | 3 | c.-7- others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | C | CCCG | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02300.hp2 others(1): Show |
a0002a0003a0013 | a0002c0002a0003c0003a0013c0025 | a0002c0002t0001a0003c0003t0001a0013c0025t0001 | a0002c0002t0001g0013a0002c0002t0001g0014a0003c0003t0001g0015others(1): Show | 4 | 376 | 0.0106 | 3 | c.-8+ others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246936456 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02040.hp2 HG02074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(12): Show | 15 | 376 | 0.0399 | 3 | c.-48 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4509 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0030others(4): Show | 8 | 350 | 0.0229 | 3 | c.*43 others(14): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0147others(53): Show | 56 | 292 | 0.1918 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129256549 | A | ACCC | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00735.hp2 others(52): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0015others(52): Show | 55 | 292 | 0.1884 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129273321 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01099.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0069a0001c0001t0002g0003a0001c0001t0002g0173others(25): Show | 28 | 292 | 0.0959 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129276736 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0151a0001c0001t0003g0091a0001c0001t0003g0135others(74): Show | 77 | 292 | 0.2637 | 3 | c.363 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129349468 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0153a0001c0001t0002g0185a0001c0001t0003g0142others(11): Show | 14 | 292 | 0.0480 | 3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129349651 | C | CAAA | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0292a0001c0001t0002g0129a0001c0001t0006g0117others(3): Show | 6 | 292 | 0.0206 | 3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129394440 | C | CTTT | intron_variant | MODIFIER | HG04199.hp1 NA18979.hp2 NA18985.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195a0001c0002t0003g0208a0001c0002t0003g0229others(3): Show | 6 | 292 | 0.0206 | 3 | c.721 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129399141 | C | CAAA | intron_variant | MODIFIER | HG01981.hp2 HG03927.hp2 NA18906.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0065a0001c0001t0001g0096others(7): Show | 10 | 292 | 0.0343 | 3 | c.824 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129403898 | C | CTAT | intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033a0001c0001t0011g0290a0001c0001t0011g0291 | 3 | 292 | 0.0103 | 3 | c.102 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129414420 | C | CTTT | intron_variant | MODIFIER | HG01168.hp2 HG02055.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0279a0001c0001t0002g0046others(5): Show | 8 | 292 | 0.0274 | 3 | c.146 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |