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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STK33_chr11_8386870_8599228 | 8565461 | CACAGCCG others(37): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0004 | a0002c0004t0022 | a0002c0004t0022g0151 | 1 | 334 | 0.0030 | -44 | c.-46 others(65): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STKLD1_chr9_133371366_133411096 | 133392559 | ATGGATGA others(37): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0086 | 3 | 356 | 0.0084 | -44 | c.584 others(61): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STMN3_chr20_63634712_63658424 | 63650089 | AAGTGCTG others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01069.hp2 others(96): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0043a0001c0001t0001g0150a0001c0001t0001g0151others(69): Show | 99 | 388 | 0.2552 | -44 | c.19+ others(59): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
STMN3_chr20_63634712_63658424 | 63650101 | GACAGGCG others(37): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0192 | 1 | 388 | 0.0026 | -44 | c.19+ others(59): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
STMN3_chr20_63634712_63658424 | 63650613 | ACCCACCC others(37): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0139a0001c0001t0004g0138 | 2 | 388 | 0.0052 | -44 | c.19+ others(59): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81308823 | TATGTGTG others(37): Show |
T | intron_variant | MODIFIER | NA18998.hp1 NA19074.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0114a0003c0003t0003g0125 | 2 | 264 | 0.0076 | -44 | c.742 others(63): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STRN_chr2_36832698_36971536 | 36845884 | AACACACA others(37): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0055 | a0001c0001t0017g0240a0001c0001t0017g0242a0001c0001t0055g0243 | 3 | 302 | 0.0099 | -44 | c.*35 others(55): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 18/18 | 3528 | chr2 | TogoVar | |||||
STX1B_chr16_30984256_31015638 | 31013346 | CCTCTTCT others(37): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02040.hp1 HG02129.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0032others(1): Show | 5 | 282 | 0.0177 | -44 | c.-29 others(55): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2709 | chr16 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130843388 | ATATATAC others(37): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0014a0009c0007t0001g0190 | 3 | 380 | 0.0079 | -44 | c.-43 others(55): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4139 | chr12 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67444339 | GGGTTAGC others(37): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01981.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0134a0001c0001t0002g0208a0001c0001t0004g0115others(1): Show | 4 | 280 | 0.0143 | -44 | c.106 others(65): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
SULT1C4_chr2_108372954_108393989 | 108374002 | CTTTATTT others(37): Show |
C | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0074 | 1 | 326 | 0.0031 | -44 | c.-43 others(55): Show |
SULT1C4 | ENSG00000198075.10 | transcript | ENST00000272452.7 | protein_coding | 3951 | chr2 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45212479 | CTATGTGT others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(101): Show | 104 | 262 | 0.3970 | -44 | c.102 others(65): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45288547 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0199others(25): Show | 28 | 262 | 0.1069 | -44 | c.101 others(63): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45288555 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 HG01952.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0039a0001c0001t0003g0019a0001c0001t0003g0022others(19): Show | 22 | 262 | 0.0840 | -44 | c.101 others(63): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76223453 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02258.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(8): Show | a0001c0001t0002g0024a0001c0001t0007g0093a0001c0001t0011g0040others(8): Show | 11 | 234 | 0.0470 | -44 | c.913 others(63): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SVOPL_chr7_138589285_138706362 | 138621846 | GTATCTAT others(37): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 360 | 0.0028 | -44 | c.126 others(61): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622094 | CTATCTAT others(37): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0359 | 1 | 360 | 0.0028 | -44 | c.126 others(62): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138637437 | TATATAGA others(37): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01099.hp2 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0040others(42): Show | 45 | 360 | 0.1250 | -44 | c.789 others(61): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138637467 | TAGATATA others(37): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0071 | 1 | 360 | 0.0028 | -44 | c.789 others(61): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12003789 | TGTGTGTG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 264 | 0.0038 | -44 | c.-76 others(53): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 598 | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595788 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 246 | 0.0041 | -44 | c.409 others(63): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595789 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0110 | 2 | 246 | 0.0081 | -44 | c.409 others(63): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT2_chr1_202585596_202715454 | 202624538 | GGATGTGT others(37): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00673.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0016a0001c0001t0003g0224a0001c0001t0004g0012others(32): Show | 35 | 276 | 0.1268 | -44 | c.-17 others(63): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
SYT9_chr11_7246904_7474043 | 7432566 | AAAAAAAA others(37): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 272 | 0.0037 | -44 | c.146 others(65): Show |
SYT9 | ENSG00000170743.17 | transcript | ENST00000318881.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SYTL2_chr11_85689229_85816141 | 85789340 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0042 | 1 | 366 | 0.0027 | -44 | c.-39 others(65): Show |
SYTL2 | ENSG00000137501.18 | transcript | ENST00000359152.10 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
TACR1_chr2_75041463_75204520 | 75154444 | ACACACAC others(37): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02071.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0133a0001c0002t0001g0258 | 2 | 282 | 0.0071 | -44 | c.390 others(63): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
TACR2_chr10_69398903_69421918 | 69409859 | GTATATGT others(37): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG02083.hp1 others(2): Show |
a0001a0004a0017 | a0001c0001a0004c0004a0017c0013 | a0001c0001t0001a0004c0004t0004a0017c0013t0004 | a0001c0001t0001g0100a0001c0001t0001g0154a0004c0004t0004g0183others(2): Show | 5 | 382 | 0.0131 | -44 | c.588 others(59): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
TACR2_chr10_69398903_69421918 | 69409865 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03209.hp1 NA19030.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0029a0006c0006t0006a0006c0006t0024 | a0001c0001t0029g0093a0006c0006t0006g0091a0006c0006t0024g0071 | 3 | 382 | 0.0079 | -44 | c.588 others(59): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
TAF1_chrX_71361357_71471005 | 71447430 | TGGTGGCT others(37): Show |
T | intron_variant | MODIFIER | HG02083.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093 | 2 | 200 | 0.0100 | -44 | c.475 others(63): Show |
TAF1 | ENSG00000147133.17 | transcript | ENST00000423759.6 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
TAF4B_chr18_26221445_26396685 | 26346793 | ATATATGT others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01167.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0174a0003c0006t0009g0175a0003c0006t0009g0177others(2): Show | 5 | 274 | 0.0183 | -44 | c.231 others(65): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
TAGAP_chr6_159029481_159049991 | 159049934 | CTTATCAC others(37): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 390 | 0.0026 | -44 | c.-51 others(55): Show |
TAGAP | ENSG00000164691.18 | transcript | ENST00000367066.8 | protein_coding | 4944 | chr6 | TogoVar | ||||||
TANC1_chr2_158963640_159237659 | 158981500 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0226 | 1 | 258 | 0.0039 | -44 | c.-12 others(65): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TARBP2_chr12_53496283_53511431 | 53498908 | CTGTGTGT others(37): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02698.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0003t0001g0001 | 4 | 334 | 0.0120 | -44 | c.-25 others(55): Show |
TARBP2 | ENSG00000139546.12 | transcript | ENST00000266987.7 | protein_coding | 2374 | chr12 | TogoVar | ||||||
TARS1_chr5_33435965_33473086 | 33442738 | TCGTGATC others(37): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0048a0001c0002t0001g0076others(3): Show | 8 | 412 | 0.0194 | -44 | c.57+ others(59): Show |
TARS1 | ENSG00000113407.14 | transcript | ENST00000265112.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TARS2_chr1_150482419_150512602 | 150484035 | CATCTCAA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 400 | 0.0025 | -44 | c.-34 others(55): Show |
TARS2 | ENSG00000143374.18 | transcript | ENST00000369064.8 | protein_coding | 3383 | chr1 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47144671 | CGGGTGCA others(37): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(57): Show | 60 | 112 | 0.5357 | -44 | c.142 others(65): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47170777 | ACAGTCCT others(37): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 112 | 0.0089 | -44 | c.142 others(63): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47172002 | GCCCAGTG others(37): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0084others(11): Show | 14 | 112 | 0.1250 | -44 | c.142 others(63): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47172010 | TGCCTACC others(37): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02965.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029a0001c0001t0001g0076a0001c0001t0003g0035others(1): Show | 4 | 112 | 0.0357 | -44 | c.142 others(63): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D32_chr6_121074494_121339480 | 121213480 | AAAATAAA others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00597.hp2 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0020others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0084others(80): Show | 83 | 292 | 0.2843 | -44 | c.248 others(63): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 21/31 | chr6 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82856707 | GTGCGCAT others(37): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(192): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0009others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(55): Show | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0009others(192): Show | 195 | 318 | 0.6132 | -44 | c.131 others(65): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82856795 | CTGCGCAT others(37): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02615.hp1 others(2): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0003a0002c0007t0005 | a0002c0003t0003g0297a0002c0003t0003g0299a0002c0007t0005g0132others(2): Show | 5 | 318 | 0.0157 | -44 | c.131 others(65): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82856883 | CTGCGCAT others(37): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp2 others(17): Show |
a0002 | a0002c0006a0002c0007a0002c0008others(2): Show | a0002c0006t0021a0002c0007t0020a0002c0007t0033others(4): Show | a0002c0006t0021g0139a0002c0006t0021g0141a0002c0007t0020g0045others(17): Show | 20 | 318 | 0.0629 | -44 | c.131 others(65): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBRG1_chr11_124617864_124640926 | 124629503 | ATTACTGA others(37): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 462 | 0.0022 | -44 | c.739 others(59): Show |
TBRG1 | ENSG00000154144.13 | transcript | ENST00000441174.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TBX15_chr1_118878047_118993343 | 118893352 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 364 | 0.0028 | -44 | c.102 others(63): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131285493 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 NA18979.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0008a0010c0016 | a0001c0001t0011a0001c0001t0020a0001c0008t0011others(1): Show | a0001c0001t0011g0186a0001c0001t0011g0188a0001c0001t0011g0189others(3): Show | 6 | 324 | 0.0185 | -44 | c.670 others(63): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
TCF7L2_chr10_112945247_113172678 | 113117390 | TCTCTCTC others(37): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0062others(3): Show | 6 | 200 | 0.0300 | -44 | c.553 others(63): Show |
TCF7L2 | ENSG00000148737.18 | transcript | ENST00000355995.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TDP1_chr14_89950927_90049764 | 89998384 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02970.hp2 HG03471.hp2 |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0008a0002c0004t0005g0086 | 3 | 264 | 0.0114 | -44 | c.154 others(63): Show |
TDP1 | ENSG00000042088.14 | transcript | ENST00000335725.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TECR_chr19_14524594_14570980 | 14535523 | AAAAAAAA others(37): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 332 | 0.0030 | -44 | c.15+ others(59): Show |
TECR | ENSG00000099797.15 | transcript | ENST00000215567.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TENM1_chrX_124370903_125209312 | 124676257 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0030 | a0001c0030t0002 | a0001c0030t0002g0051 | 1 | 140 | 0.0071 | -44 | c.101 others(63): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 8/34 | chrX | TogoVar |