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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT5_chr8_6703642_6766503 | 6764623 | T | TACACAC | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0299a0001c0001t0002g0300 | 4 | 404 | 0.0099 | 6 | c.*72 others(17): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 3121 | chr8 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177414897 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0026others(67): Show | 70 | 258 | 0.2713 | 6 | c.261 others(23): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GGGTATA | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00673.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0110others(58): Show | 61 | 258 | 0.2364 | 6 | c.441 others(21): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GTATATA | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0028others(3): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0031others(16): Show | 19 | 258 | 0.0736 | 6 | c.441 others(21): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTT | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0017a0001c0001t0025others(2): Show | a0001c0001t0002g0049a0001c0001t0002g0090a0001c0001t0017g0207others(5): Show | 8 | 258 | 0.0310 | 6 | c.442 others(21): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177438983 | T | TACACAC | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0142a0001c0001t0001g0183a0001c0001t0002g0024others(22): Show | 25 | 258 | 0.0969 | 6 | c.637 others(23): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGR2_chr7_16786811_16809999 | 16791102 | A | AGGGAGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(311): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0020others(156): Show | 314 | 460 | 0.6826 | 6 | c.*18 others(17): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 708 | chr7 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16804267 | T | TACACAC | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0011 | a0001c0001t0005g0080a0001c0001t0005g0081a0001c0002t0011g0059 | 4 | 460 | 0.0087 | 6 | c.-8+ others(19): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16885053 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00741.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0039others(19): Show | 30 | 458 | 0.0655 | 6 | c.-31 others(17): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 3071 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029939 | A | ATGTGTG | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0024 | a0001c0011a0001c0013a0001c0055others(1): Show | a0001c0011t0006a0001c0013t0008a0001c0013t0010others(2): Show | a0001c0011t0006g0010a0001c0013t0008g0025a0001c0013t0010g0011others(3): Show | 7 | 210 | 0.0333 | 6 | c.464 others(23): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | A | AACACAC | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG01243.hp1 others(26): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(26): Show | 29 | 302 | 0.0960 | 6 | c.233 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85639367 | G | GCACACA | intron_variant | MODIFIER | HG00323.hp2 HG02004.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0013t0013 | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0020others(9): Show | 12 | 302 | 0.0397 | 6 | c.130 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85639367 | G | GCGCACA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(9): Show | 12 | 302 | 0.0397 | 6 | c.130 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAAAAAT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058a0001c0001t0001g0098a0001c0001t0001g0153others(6): Show | 9 | 302 | 0.0298 | 6 | c.157 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAAATAT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0001g0145a0001c0001t0001g0146others(3): Show | 6 | 302 | 0.0199 | 6 | c.157 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85691536 | G | GGGGTGT | intron_variant | MODIFIER | HG02615.hp1 HG02698.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0056others(6): Show | 9 | 302 | 0.0298 | 6 | c.157 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85691536 | G | GGTGTGT | intron_variant | MODIFIER | HG01975.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0140a0001c0001t0001g0153others(2): Show | 5 | 302 | 0.0166 | 6 | c.157 others(23): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | T | TATACAC | intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0013t0013 | a0001c0001t0001g0101a0001c0001t0001g0127a0001c0001t0003g0293others(1): Show | 4 | 302 | 0.0133 | 6 | c.-34 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | T | TATATAC | intron_variant | MODIFIER | HG01167.hp2 HG03209.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0160a0001c0001t0002g0161a0001c0001t0002g0168others(1): Show | 4 | 302 | 0.0133 | 6 | c.-34 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
AGTR2_chrX_116165744_116179974 | 116167537 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(13): Show | 95 | 332 | 0.2861 | 6 | c.-33 others(17): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3206 | chrX | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230701148 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01074.hp1 others(20): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0007 | a0001c0001t0001a0006c0006t0001a0007c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(6): Show | 23 | 456 | 0.0504 | 6 | c.*19 others(17): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35028558 | T | TGAGAGA | intron_variant | MODIFIER | HG02080.hp2 HG02257.hp2 HG02293.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0003a0002c0002a0005c0005others(1): Show | a0001c0003t0001a0001c0003t0004a0002c0002t0001others(3): Show | a0001c0003t0001g0088a0001c0003t0004g0093a0002c0002t0001g0056others(6): Show | 9 | 384 | 0.0234 | 6 | c.770 others(23): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(22): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0006a0007c0018others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0006t0002others(3): Show | a0001c0001t0001g0152a0001c0001t0001g0155a0001c0001t0001g0157others(20): Show | 25 | 384 | 0.0651 | 6 | c.89- others(19): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG01952.hp1 others(22): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0008a0001c0008t0010 | a0001c0001t0004g0004a0001c0001t0004g0008a0001c0001t0004g0012others(5): Show | 25 | 444 | 0.0563 | 6 | c.*48 others(17): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | A | AACACAC | intron_variant | MODIFIER | HG00609.hp1 NA18945.hp1 NA18971.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001a0002c0002t0003 | a0001c0001t0004g0371a0002c0002t0001g0091a0002c0002t0001g0095others(2): Show | 5 | 376 | 0.0133 | 6 | c.149 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246929410 | A | AAAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(236): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(43): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0133others(235): Show | 239 | 376 | 0.6356 | 6 | c.-8+ others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG01081.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0049others(30): Show | 49 | 350 | 0.1400 | 6 | c.*43 others(17): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129267239 | G | GTGTGTA | intron_variant | MODIFIER | HG01123.hp1 HG03490.hp2 NA18948.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0055a0001c0001t0001g0074a0001c0001t0001g0076others(7): Show | 10 | 292 | 0.0343 | 6 | c.363 others(25): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129403860 | C | CAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0138a0001c0001t0001g0172a0001c0001t0001g0180others(7): Show | 10 | 292 | 0.0343 | 6 | c.102 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27608841 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00673.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(15): Show | 19 | 180 | 0.1056 | 6 | c.-55 others(17): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135290913 | A | AACACAC | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02559.hp1 others(12): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0212others(12): Show | 15 | 220 | 0.0682 | 6 | c.348 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135292109 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0002others(2): Show | a0001c0001t0002g0041a0001c0001t0002g0081a0001c0001t0002g0088others(24): Show | 27 | 220 | 0.1227 | 6 | c.348 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACA | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG01891.hp2 others(18): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0054a0001c0001t0002g0096a0001c0001t0003g0033others(18): Show | 21 | 220 | 0.0955 | 6 | c.316 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135352701 | G | GTATATA | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 HG03471.hp1 others(1): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0004a0001c0003t0013a0004c0007t0011 | a0001c0003t0004g0017a0001c0003t0013g0046a0004c0007t0011g0072others(1): Show | 4 | 220 | 0.0182 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135352701 | G | GTGTATA | intron_variant | MODIFIER | HG02922.hp2 HG03710.hp2 HG04199.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0007 | a0001c0002t0001g0021a0001c0002t0001g0023a0001c0013t0007g0168 | 3 | 220 | 0.0136 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135352713 | A | ATATATG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0008a0001c0003t0004g0009 | 2 | 220 | 0.0091 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135361645 | T | TCACACA | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0017 | a0001c0001t0003g0035a0001c0001t0006g0002a0001c0001t0017g0036 | 3 | 220 | 0.0136 | 6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135364921 | A | AAGAGGG | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0064a0001c0001t0001g0079others(11): Show | 14 | 220 | 0.0636 | 6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 324013 | T | TTCTTTC | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01109.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0017others(10): Show | a0001c0001t0007g0032a0001c0001t0009g0030a0001c0001t0017g0034others(16): Show | 21 | 268 | 0.0784 | 6 | c.-11 others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344976 | G | GTGGGGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0243a0006c0006t0021g0231a0006c0006t0021g0234others(1): Show | 4 | 268 | 0.0149 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344998 | T | TGCGCGG | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0243a0006c0006t0021g0231a0006c0006t0021g0234others(1): Show | 4 | 268 | 0.0149 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345025 | A | AGGCTGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0243a0006c0006t0021g0231a0006c0006t0021g0234others(1): Show | 4 | 268 | 0.0149 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345065 | T | TGCGCGG | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02145.hp2 others(2): Show |
a0003a0004a0006others(1): Show | a0003c0004a0004c0003a0006c0006others(1): Show | a0003c0004t0004a0004c0003t0022a0006c0006t0021others(1): Show | a0003c0004t0004g0014a0004c0003t0022g0243a0006c0006t0021g0231others(2): Show | 5 | 268 | 0.0187 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345080 | G | GGGGAGA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01099.hp2 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0253others(22): Show | 25 | 268 | 0.0933 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345121 | T | TGCGCGG | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0243a0006c0006t0021g0231a0006c0006t0021g0234others(1): Show | 4 | 268 | 0.0149 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345182 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG01358.hp1 NA18951.hp2 others(2): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0021 | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0002g0074a0002c0002t0001g0075a0002c0002t0006g0218others(2): Show | 5 | 268 | 0.0187 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(3): Show | a0001c0001t0001g0152a0001c0001t0001g0256a0001c0001t0001g0263others(5): Show | 8 | 268 | 0.0299 | 6 | c.*66 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17294002 | G | GTATATA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0034a0002c0002t0004g0108a0002c0002t0004g0124others(1): Show | 4 | 370 | 0.0108 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4649 | chr7 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTATATA | upstream_gene_variant | MODIFIER | HG03209.hp1 NA18970.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0016 | a0002c0002t0002g0002a0002c0002t0006g0005a0002c0002t0016g0075 | 3 | 370 | 0.0081 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTGTATA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02970.hp2 HG03654.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0036a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0036g0106a0002c0002t0001g0109a0002c0002t0002g0002others(3): Show | 9 | 370 | 0.0243 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar |