view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A7_chr5_1045384_1117063 | 1073036 | GAGCCCCC others(119): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0019 | a0006c0019t0009 | a0006c0019t0009g0013 | 1 | 118 | 0.0085 | -126 | c.224 others(17): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073131 | GAGCCCCC others(119): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 118 | 0.0085 | -126 | c.224 others(17): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19678342 | CCCCCCCA others(119): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 160 | 0.0063 | -126 | c.768 others(17): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A19_chr17_75267992_75294433 | 75287198 | TGAACTCC others(119): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0040 a0001c0002t0006g0199 a0001c0002t0006g0201 others(2): Show |
6 | 344 | 0.0174 | -126 | c.-38 others(15): Show |
SLC25A19 | ENSG00000125454.12 | transcript | ENST00000416858.7 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396421 | GGAGAGAG others(119): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0226 | 1 | 324 | 0.0031 | -126 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44980897 | AGGACACC others(119): Show |
A | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 334 | 0.0030 | -126 | c.*40 others(11): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 3925 | chr21 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39619306 | ATATATCA others(119): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0049 | a0001c0001t0007g0235 a0001c0001t0007g0253 a0001c0001t0007g0259 others(2): Show |
5 | 344 | 0.0145 | -126 | c.-35 others(19): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246388505 | TGGGGACC others(119): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG03831.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0005c0013t0002 | a0001c0001t0002g0087 a0005c0013t0002g0072 |
2 | 150 | 0.0133 | -126 | c.165 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826641 | TTTTACAA others(119): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0003g0250 a0001c0001t0004g0063 a0001c0001t0004g0065 others(12): Show |
15 | 302 | 0.0497 | -126 | c.12+ others(15): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414931 | ACAGTGTT others(119): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 others(1): Show |
4 | 358 | 0.0112 | -126 | c.233 others(19): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5316663 | TATATTAT others(119): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0002g0002 others(3): Show |
6 | 170 | 0.0353 | -126 | c.261 others(19): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27241161 | TTATATAT others(119): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 374 | 0.0027 | -126 | c.-31 others(11): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3124 | chr12 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43836153 | CACTGCAG others(119): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(78): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0014 others(52): Show |
81 | 386 | 0.2098 | -126 | c.509 others(17): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
TAF13_chr1_109059140_109081003 | 109071957 | AATATATA others(119): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02155.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0172 others(3): Show |
6 | 414 | 0.0145 | -126 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
TAF13_chr1_109059140_109081003 | 109072019 | CACATATA others(119): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG04115.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0071 |
3 | 414 | 0.0073 | -126 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47171997 | GGTGAGCC others(119): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0005g0104 a0001c0001t0005g0105 |
3 | 112 | 0.0268 | -126 | c.142 others(19): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBXT_chr6_166152656_166172851 | 166162673 | TCTCCAGA others(119): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(43): Show |
a0001a0009a0010others(1): Show | a0001c0004a0001c0007a0001c0020others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0008others(7): Show | a0001c0004t0001g0004 a0001c0004t0001g0013 a0001c0004t0001g0032 others(13): Show |
46 | 460 | 0.1000 | -126 | c.731 others(14): Show |
TBXT | ENSG00000164458.10 | transcript | ENST00000366876.7 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
TDRD9_chr14_103923456_104057667 | 103999643 | AAAACCTT others(119): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0002a0001c0002t0002a0001c0010t0002others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(118): Show |
122 | 372 | 0.3280 | -126 | c.148 others(18): Show |
TDRD9 | ENSG00000156414.20 | transcript | ENST00000409874.9 | protein_coding | 13/35 | chr14 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1289842 | TGCCTCAC others(119): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0375 | 1 | 392 | 0.0026 | -126 | c.157 others(19): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291494 | ACACCTGA others(119): Show |
A | intron_variant | MODIFIER | HG03486.hp2 HG03516.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0013t0001 | a0001c0001t0002g0196 a0001c0001t0003g0197 a0001c0013t0001g0108 |
3 | 392 | 0.0077 | -126 | c.157 others(19): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TEX13C_chrX_125314871_125330214 | 125322110 | AGGACAGC others(119): Show |
A | conservative_inframe_deletion | MODERATE | NA18969.hp1 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0001 | 1 | 303 | 0.0033 | -126 | c.212 others(9): Show |
p.Asn others(13): Show |
TEX13C | ENSG00000282815.2 | transcript | ENST00000695840.1 | protein_coding | 1/2 | 2374/4765 | 2125/2982 | 709/993 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
TGFA_chr2_70442284_70558826 | 70556295 | ATGCTTGA others(119): Show |
A | upstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0292 | 1 | 344 | 0.0029 | -126 | c.-26 others(11): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2470 | chr2 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155027779 | TATATGTA others(119): Show |
T | intron_variant | MODIFIER | HG02647.hp1 NA19240.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0013a0001c0005t0006 | a0001c0002t0001g0061 a0001c0002t0013g0224 a0001c0005t0006g0009 |
3 | 230 | 0.0130 | -126 | c.-20 others(21): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115614 | GAGGAGCG others(119): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0129 | 1 | 444 | 0.0023 | -126 | c.227 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | AGCGAAGG others(119): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02083.hp1 HG02738.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0004 | a0001c0001t0005a0001c0001t0016a0001c0001t0022others(3): Show | a0001c0001t0005g0177 a0001c0001t0016g0280 a0001c0001t0022g0265 others(4): Show |
7 | 444 | 0.0158 | -126 | c.227 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129638470 | CTATATAT others(119): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00741.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(34): Show |
37 | 94 | 0.3936 | -126 | c.968 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82901079 | AATATATA others(119): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG03041.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0011a0001c0001t0034others(1): Show | a0001c0001t0001g0083 a0001c0001t0011g0068 a0001c0001t0034g0001 others(1): Show |
4 | 96 | 0.0417 | -126 | c.148 others(19): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNC_chr9_115014575_115123157 | 115095514 | GTATATAT others(119): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG03471.hp2 |
a0026a0036 | a0026c0046a0036c0104 | a0026c0046t0004a0036c0104t0028 | a0026c0046t0004g0339 a0026c0046t0004g0340 a0036c0104t0028g0341 |
3 | 366 | 0.0082 | -126 | c.-13 others(19): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 1/27 | chr9 | TogoVar | |||||||
TNC_chr9_115014575_115123157 | 115095568 | ATATATAT others(119): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG03209.hp2 |
a0016a0042 | a0016c0022a0042c0063 | a0016c0022t0004a0042c0063t0012 | a0016c0022t0004g0252 a0016c0022t0004g0261 a0042c0063t0012g0149 |
3 | 366 | 0.0082 | -126 | c.-13 others(19): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 1/27 | chr9 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287675 | CCCTCCCC others(119): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 348 | 0.0029 | -126 | c.519 others(15): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TPM4_chr19_16071495_16108002 | 16104090 | TGGGTGCA others(119): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(116): Show |
144 | 378 | 0.3810 | -126 | c.*27 others(11): Show |
TPM4 | ENSG00000167460.17 | transcript | ENST00000643579.2 | protein_coding | 1089 | chr19 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 140157242 | AAAGCCTC others(119): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 98 | 0.0102 | -126 | c.255 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153244193 | TTCTCCTC others(119): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0234 | 1 | 268 | 0.0037 | -126 | c.31- others(17): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM46_chr1_155168849_155189970 | 155189844 | TGTCCGGG others(119): Show |
T | downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | -126 | c.*56 others(11): Show |
TRIM46 | ENSG00000163462.19 | transcript | ENST00000334634.9 | protein_coding | 4875 | chr1 | TogoVar | |||||||
TRIM4_chr7_99885403_99924530 | 99888142 | GGGCGACT others(119): Show |
G | downstream_gene_variant | MODIFIER | HG01169.hp2 HG03471.hp2 NA20752.hp1 |
a0001a0003 | a0001c0002a0001c0003a0003c0005 | a0001c0002t0001a0001c0003t0001a0003c0005t0001 | a0001c0002t0001g0028 a0001c0003t0001g0118 a0003c0005t0001g0079 |
3 | 322 | 0.0093 | -126 | c.*38 others(11): Show |
TRIM4 | ENSG00000146833.16 | transcript | ENST00000349062.7 | protein_coding | 2260 | chr7 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3095506 | CCCCCCCA others(119): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0119 | 1 | 288 | 0.0035 | -126 | c.-18 others(19): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44591710 | CTGGCTGG others(119): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 294 | 0.0034 | -126 | c.83- others(17): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 666897 | TGATGGAG others(119): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA18983.hp2 NA19054.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0326 a0001c0002t0005g0164 a0001c0002t0005g0178 |
3 | 482 | 0.0062 | -126 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666903 | AGATGGTG others(119): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 482 | 0.0021 | -126 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666963 | AGATGGTG others(119): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 482 | 0.0021 | -126 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ULBP1_chr6_149958943_149978715 | 149965091 | TATCGCGG others(119): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(120): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0013 others(30): Show |
123 | 440 | 0.2796 | -126 | c.85+ others(15): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167295457 | CCCTCGTG others(119): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(10): Show | a0001c0001t0001g0254 a0001c0001t0002g0041 a0001c0001t0002g0269 others(37): Show |
50 | 448 | 0.1116 | -126 | c.270 others(15): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
USH1C_chr11_17488900_17549416 | 17549078 | GAGAGGTG others(119): Show |
G | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0220 | 1 | 360 | 0.0028 | -126 | c.-48 others(11): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 4663 | chr11 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159129784 | GGGGGGGA others(119): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0005t0008a0001c0005t0019 | a0001c0002t0007g0156 a0001c0002t0007g0157 a0001c0005t0008g0006 others(6): Show |
9 | 336 | 0.0268 | -126 | c.151 others(19): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
WDR20_chr14_102134897_102215527 | 102172443 | GTGGCCGG others(119): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 a0001c0002t0001g0262 |
2 | 264 | 0.0076 | -126 | c.250 others(19): Show |
WDR20 | ENSG00000140153.18 | transcript | ENST00000342702.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37583517 | GGGATGAT others(119): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA18960.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0001g0217 |
3 | 242 | 0.0124 | -126 | c.918 others(19): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZAN_chr7_100728595_100802797 | 100752221 | TCCACAGA others(119): Show |
T | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02572.hp1 HG02818.hp2 |
a0017 | a0017c0038a0017c0102 | a0017c0038t0002a0017c0102t0002 | a0017c0038t0002g0003 a0017c0038t0002g0045 a0017c0102t0002g0002 |
3 | 308 | 0.0097 | -126 | c.215 others(9): Show |
p.Ile others(13): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 14/48 | 2352/8700 | 2156/8439 | 719/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100752675 | CCACCATC others(119): Show |
C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG02015.hp2 HG04199.hp2 |
a0024a0046 | a0024c0025a0046c0059 | a0024c0025t0001a0046c0059t0001 | a0024c0025t0001g0203 a0024c0025t0001g0211 a0046c0059t0001g0107 |
3 | 308 | 0.0097 | -126 | c.261 others(9): Show |
p.Leu others(13): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 14/48 | 2808/8700 | 2612/8439 | 871/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100752771 | TTGAAGAG others(119): Show |
T | disruptive_inframe_deletion | MODERATE | HG02809.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0015 | a0015c0023a0015c0024 | a0015c0023t0001a0015c0024t0001 | a0015c0023t0001g0305 a0015c0023t0001g0306 a0015c0024t0001g0303 others(1): Show |
4 | 308 | 0.0130 | -126 | c.273 others(9): Show |
p.Pro others(13): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 14/48 | 2934/8700 | 2738/8439 | 913/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZBED4_chr22_49848844_49895080 | 49879767 | GTGTTTCT others(119): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0223 | 1 | 316 | 0.0032 | -126 | c.-32 others(19): Show |
ZBED4 | ENSG00000100426.7 | transcript | ENST00000216268.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |