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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGTPBP1_chr9_85541539_85746954 | 85741905 | AGGC | A | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0003a0001c0002t0003a0001c0013t0013 | a0001c0001t0003g0293a0001c0001t0003g0294a0001c0001t0003g0296others(10): Show | 13 | 302 | 0.0431 | -3 | c.-16 others(12): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/26 | 29373 | chr9 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85743926 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0002g0223a0001c0001t0003g0293a0001c0001t0003g0294others(9): Show | 12 | 302 | 0.0397 | -3 | c.-21 others(14): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1973 | chr9 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148694615 | ATGT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18747.hp1 NA18982.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0002t0001g0011a0001c0002t0001g0024 | 5 | 350 | 0.0143 | -3 | c.-36 others(14): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 3287 | chr3 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148703927 | CTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0002others(1): Show | a0001c0001t0002g0229a0001c0001t0006g0226a0001c0003t0002g0227others(2): Show | 5 | 350 | 0.0143 | -3 | c.-13 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
AGTR2_chrX_116165744_116179974 | 116170923 | ATTT | A | intron_variant | MODIFIER | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 1 | 332 | 0.0030 | -3 | c.-95 others(16): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AGTR2_chrX_116165744_116179974 | 116171176 | ATTT | A | intron_variant | MODIFIER | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 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 | |||||
AGTR2_chrX_116165744_116179974 | 116171261 | GCTT | G | intron_variant | MODIFIER | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 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 | 230711816 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(255): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0008a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(63): Show | 258 | 456 | 0.5658 | -3 | c.-30 others(18): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 34996891 | GTTC | G | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG02965.hp2 others(3): Show |
a0006a0014 | a0006c0007a0014c0016 | a0006c0007t0005a0014c0016t0005 | a0006c0007t0005g0118a0006c0007t0005g0119a0014c0016t0005g0246others(3): Show | 6 | 384 | 0.0156 | -3 | c.*18 others(14): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1210 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35013798 | AAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02109.hp2 others(29): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0003a0006c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(24): Show | 32 | 384 | 0.0833 | -3 | c.109 others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 10/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35014504 | TTTC | T | intron_variant | MODIFIER | HG02056.hp2 NA18941.hp1 NA18951.hp1 others(12): Show |
a0004a0005a0007 | a0004c0004a0005c0005a0007c0009 | a0004c0004t0001a0005c0005t0002a0007c0009t0002 | a0004c0004t0001g0234a0004c0004t0001g0235a0004c0004t0001g0314others(12): Show | 15 | 384 | 0.0391 | -3 | c.964 others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35015849 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(30): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0034a0003c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0157a0001c0001t0001g0165a0001c0001t0001g0166others(28): Show | 33 | 384 | 0.0859 | -3 | c.964 others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35022747 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(136): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0003a0001c0034others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0141a0001c0001t0001g0148a0001c0001t0001g0149others(126): Show | 139 | 384 | 0.3620 | -3 | c.963 others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240865035 | ATTT | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01517.hp1 HG02717.hp1 others(3): Show |
a0003a0009 | a0003c0004a0009c0016 | a0003c0004t0006a0009c0016t0002a0009c0016t0009 | a0003c0004t0006g0034a0003c0004t0006g0054a0009c0016t0002g0129others(1): Show | 6 | 444 | 0.0135 | -3 | c.-38 others(14): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3788 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246838987 | CTAT | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0009others(2): Show | a0001c0004a0001c0012a0002c0008others(4): Show | a0001c0004t0002a0001c0004t0008a0001c0004t0012others(8): Show | a0001c0004t0002g0021a0001c0004t0002g0022a0001c0004t0002g0023others(31): Show | 34 | 376 | 0.0904 | -3 | c.*18 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 110 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246839707 | AATT | A | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02559.hp1 others(15): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0005a0004c0021others(4): Show | a0001c0001t0011a0004c0005t0005a0004c0005t0006others(5): Show | a0001c0001t0011g0144a0001c0001t0011g0338a0004c0005t0005g0004others(15): Show | 18 | 376 | 0.0479 | -3 | c.*10 others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 36/36 | 1096 | chr1 | TogoVar | |||||
AHCTF1_chr1_246834098_246936948 | 246843076 | TAAG | T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02630.hp2 others(10): Show |
a0001 | a0001c0004a0001c0012a0001c0044 | a0001c0004t0002a0001c0004t0008a0001c0004t0020others(2): Show | a0001c0004t0002g0143a0001c0004t0002g0145a0001c0004t0002g0146others(10): Show | 13 | 376 | 0.0346 | -3 | c.652 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 34/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp2 HG02040.hp1 others(14): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0025 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0303others(14): Show | 17 | 376 | 0.0452 | -3 | c.334 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246867902 | CACA | C | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0019others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0004t0002others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0295others(25): Show | 28 | 376 | 0.0745 | -3 | c.308 others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246868846 | GTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01175.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0002others(8): Show | a0001c0001t0001g0162a0001c0001t0001g0180a0001c0001t0001g0293others(24): Show | 27 | 376 | 0.0718 | -3 | c.308 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246884324 | ACTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(106): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0004t0002others(13): Show | a0001c0001t0001g0046a0001c0001t0001g0175a0001c0001t0001g0176others(105): Show | 109 | 376 | 0.2899 | -3 | c.266 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(30): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0002others(10): Show | a0001c0001t0001g0151a0001c0001t0001g0154a0001c0001t0001g0163others(30): Show | 33 | 376 | 0.0878 | -3 | c.180 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246909394 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(177): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(33): Show | a0001c0001t0001g0046a0001c0001t0001g0133a0001c0001t0001g0134others(176): Show | 180 | 376 | 0.4787 | -3 | c.557 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246923078 | TGAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0044 | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(2): Show | a0001c0001t0001g0042a0001c0001t0004g0363a0001c0001t0004g0364others(14): Show | 17 | 376 | 0.0452 | -3 | c.-7- others(18): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | CCCG | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(44): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0004a0001c0019others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(16): Show | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0001t0001g0154others(44): Show | 47 | 376 | 0.1250 | -3 | c.-8+ others(14): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110028658 | AAGG | A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0013a0001c0001t0004g0031a0001c0001t0004g0106others(5): Show | 12 | 350 | 0.0343 | -3 | c.*69 others(14): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 4917 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129220166 | TAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(287): Show | 290 | 292 | 0.9932 | -3 | c.-49 others(14): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 4863 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129221093 | CTTT | C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01081.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0108others(8): Show | 11 | 292 | 0.0377 | -3 | c.-39 others(14): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 3936 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129235417 | ATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0147others(51): Show | 54 | 292 | 0.1849 | -3 | c.363 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129251317 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(153): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(153): Show | 156 | 292 | 0.5343 | -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 | 129285696 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0105a0001c0001t0001g0171a0001c0001t0001g0172others(90): Show | 93 | 292 | 0.3185 | -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 | 129299369 | GTTT | G | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG01515.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0176a0001c0001t0003g0139a0001c0001t0003g0143others(15): Show | 18 | 292 | 0.0616 | -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 | 129321743 | GTTT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0115a0001c0001t0001g0122a0001c0001t0001g0124others(19): Show | 22 | 292 | 0.0753 | -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 | 129347214 | CATT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0115a0001c0001t0001g0122a0001c0001t0001g0124others(13): Show | 16 | 292 | 0.0548 | -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 | 129355237 | TTGC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(113): Show | 116 | 292 | 0.3973 | -3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129362597 | GTTT | G | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0280a0001c0001t0002g0129a0001c0001t0006g0116others(12): Show | 15 | 292 | 0.0514 | -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 | 129411664 | CAGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0091a0001c0001t0003g0135a0001c0001t0003g0139others(78): Show | 81 | 292 | 0.2774 | -3 | c.136 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCY_chr20_34275268_34308355 | 34279109 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(65): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0001a0005c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(35): Show | 68 | 300 | 0.2267 | -3 | c.*19 others(14): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1158 | chr20 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34299240 | CCTT | C | intron_variant | MODIFIER | HG00544.hp1 HG02027.hp2 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0061others(4): Show | 14 | 300 | 0.0467 | -3 | c.29- others(18): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | CAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0094others(5): Show | 8 | 180 | 0.0444 | -3 | c.*44 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27541001 | TAAA | T | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02970.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0001a0002c0003t0002a0004c0010t0001 | a0001c0001t0001g0046a0001c0001t0001g0087a0002c0003t0002g0063others(3): Show | 6 | 180 | 0.0333 | -3 | c.*44 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27549006 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02109.hp2 HG02451.hp1 others(8): Show |
a0003a0004 | a0003c0004a0003c0009a0004c0010 | a0003c0004t0001a0003c0004t0002a0003c0004t0006others(4): Show | a0003c0004t0001g0054a0003c0004t0001g0107a0003c0004t0002g0074others(8): Show | 11 | 180 | 0.0611 | -3 | c.310 others(12): Show |
p.Ser others(7): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/9 | 4010/6428 | 3107/4812 | 1036/1603 | chr1 | TogoVar | ||
AHI1_chr6_135278532_135502740 | 135300338 | AAAG | A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01496.hp2 others(9): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0017 | a0001c0001t0003a0001c0003t0004a0009c0017t0003 | a0001c0001t0003g0029a0001c0001t0003g0033a0001c0001t0003g0034others(9): Show | 12 | 220 | 0.0546 | -3 | c.348 others(20): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135302614 | AGTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(54): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0053a0001c0001t0001g0058others(54): Show | 57 | 220 | 0.2591 | -3 | c.342 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 26/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135326415 | TTTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0041a0001c0001t0003g0018a0001c0001t0003g0032others(9): Show | 12 | 220 | 0.0546 | -3 | c.316 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135333235 | CAAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219a0001c0003t0004g0008a0001c0003t0004g0009others(2): Show | 5 | 220 | 0.0227 | -3 | c.316 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135338300 | CAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp2 others(3): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0004a0001c0003t0013a0004c0007t0011 | a0001c0003t0004g0008a0001c0003t0004g0009a0001c0003t0004g0017others(3): Show | 6 | 220 | 0.0273 | -3 | c.316 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135362156 | TGTG | T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0214a0001c0001t0003g0215a0001c0001t0003g0216others(15): Show | 18 | 220 | 0.0818 | -3 | c.311 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135372021 | CATA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219a0001c0003t0004g0008a0001c0003t0004g0009others(2): Show | 5 | 220 | 0.0227 | -3 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135374108 | ATTT | A | intron_variant | MODIFIER | HG01261.hp2 HG01516.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0146a0001c0001t0001g0149a0001c0001t0001g0160others(4): Show | 7 | 220 | 0.0318 | -3 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar |