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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUV39H1_chrX_48691734_48714016 | 48706313 | C | CA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0020 | 1 | 252 | 0.0040 | 1 | c.878 others(4): Show |
p.Ala others(5): Show |
SUV39H1 | ENSG00000101945.17 | transcript | ENST00000376687.4 | protein_coding | 4/6 | 930/2736 | 879/1239 | 293/412 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SUV39H1_chrX_48691734_48714016 | 48707494 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0020 | 1 | 252 | 0.0040 | 1 | c.116 others(5): Show |
p.Gly others(5): Show |
SUV39H1 | ENSG00000101945.17 | transcript | ENST00000376687.4 | protein_coding | 6/6 | 1218/2736 | 1167/1239 | 389/412 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SUV39H1_chrX_48691734_48714016 | 48707502 | T | TTC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0020 | 1 | 252 | 0.0040 | 2 | c.117 others(11): Show |
p.Ser others(5): Show |
SUV39H1 | ENSG00000101945.17 | transcript | ENST00000376687.4 | protein_coding | 6/6 | 1223/2736 | 1172/1239 | 391/412 | chrX | TogoVar | ||
SYAP1_chrX_16714612_16770340 | 16719858 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0017 | 1 | 290 | 0.0035 | 1 | c.137 others(4): Show |
p.Asp others(4): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 1/9 | 251/6153 | 138/1059 | 46/352 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TAF1_chrX_71361357_71471005 | 71378368 | TC | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0142 | 1 | 200 | 0.0050 | -1 | c.107 others(5): Show |
p.Pro others(5): Show |
TAF1 | ENSG00000147133.17 | transcript | ENST00000423759.6 | protein_coding | 7/38 | 1088/7599 | 1070/5622 | 357/1873 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TAF1_chrX_71361357_71471005 | 71378402 | C | CA | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0142 | 1 | 200 | 0.0050 | 1 | c.110 others(5): Show |
p.Leu others(5): Show |
TAF1 | ENSG00000147133.17 | transcript | ENST00000423759.6 | protein_coding | 7/38 | 1123/7599 | 1105/5622 | 369/1873 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TAF1_chrX_71361357_71471005 | 71379001 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0142 | 1 | 200 | 0.0050 | 1 | c.133 others(5): Show |
p.Asn others(5): Show |
TAF1 | ENSG00000147133.17 | transcript | ENST00000423759.6 | protein_coding | 8/38 | 1351/7599 | 1333/5622 | 445/1873 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TDRKH_chr1_151768494_151795500 | 151775837 | GCCAGACT others(51): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19076.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0196 | 1 | 418 | 0.0024 | -58 | c.121 others(70): Show |
p.Arg others(5): Show |
TDRKH | ENSG00000182134.17 | transcript | ENST00000368824.8 | protein_coding | 9/13 | 1412/2792 | 1218/1686 | 406/561 | chr1 | TogoVar | ||
TEX13D_chrX_124327660_124341863 | 124333445 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0022 | a0022c0024 | a0022c0024t0001 | a0022c0024t0001g0000 | 1 | 333 | 0.0030 | 1 | c.532 others(4): Show |
p.Leu others(5): Show |
TEX13D | ENSG00000282419.3 | transcript | ENST00000632372.3 | protein_coding | 1/1 | 791/4204 | 533/2145 | 178/714 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TFE3_chrX_49023726_49048357 | 49039248 | A | AC | frameshift_variant | HIGH | HG03710.hp1 NA19076.hp1 |
a0005a0011 | a0005c0007a0011c0006 | a0005c0007t0001a0011c0006t0009 | a0005c0007t0001g0032a0011c0006t0009g0115 | 2 | 260 | 0.0077 | 1 | c.392 others(4): Show |
p.Glu others(5): Show |
TFE3 | ENSG00000068323.17 | transcript | ENST00000315869.8 | protein_coding | 3/10 | 523/3291 | 392/1728 | 131/575 | chrX | TogoVar | ||
TFE3_chrX_49023726_49048357 | 49043170 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0006 | a0011c0006t0009 | a0011c0006t0009g0115 | 1 | 260 | 0.0039 | 1 | c.56d others(3): Show |
p.Arg others(4): Show |
TFE3 | ENSG00000068323.17 | transcript | ENST00000315869.8 | protein_coding | 1/10 | 187/3291 | 56/1728 | 19/575 | chrX | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | ||
TKTL1_chrX_154290795_154335350 | 154305309 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0010 | a0008c0010t0014 | a0008c0010t0014g0013 | 1 | 272 | 0.0037 | 1 | c.141 others(4): Show |
p.Thr others(4): Show |
TKTL1 | ENSG00000007350.18 | transcript | ENST00000369915.8 | protein_coding | 2/13 | 207/2518 | 142/1791 | 48/596 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | ||
TRIM38_chr6_25957802_25996231 | 25969403 | C | T | stop_gained | HIGH | NA18940.hp2 NA18941.hp2 NA18948.hp1 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0016a0002c0003t0029a0002c0003t0041others(5): Show | a0002c0003t0016g0009a0002c0003t0016g0033a0002c0003t0016g0055others(9): Show | 14 | 366 | 0.0383 | 0 | c.490 others(3): Show |
p.Arg others(4): Show |
TRIM38 | ENSG00000112343.11 | transcript | ENST00000357085.5 | protein_coding | 4/8 | 966/9418 | 490/1398 | 164/465 | chr6 | TogoVar | ||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TSC22D3_chrX_107708221_107780787 | 107714677 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0204 | 1 | 216 | 0.0046 | 1 | c.444 others(4): Show |
p.Leu others(5): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 3/3 | 812/2269 | 444/603 | 148/200 | chrX | TogoVar | ||
TSPY2_chrY_6241223_6254018 | 6246352 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0005 | 1 | 108 | 0.0093 | 1 | c.86d others(3): Show |
p.Leu others(4): Show |
TSPY2 | ENSG00000168757.13 | transcript | ENST00000320701.9 | protein_coding | 1/6 | 133/1166 | 87/927 | 29/308 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TSPY2_chrY_6241223_6254018 | 6246408 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0005 | 1 | 108 | 0.0093 | 1 | c.145 others(4): Show |
p.Ala others(4): Show |
TSPY2 | ENSG00000168757.13 | transcript | ENST00000320701.9 | protein_coding | 1/6 | 192/1166 | 146/927 | 49/308 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TUBB3_chr16_89918342_89941097 | 89923395 | GCCCAGTA others(10): Show |
G | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0053 | 1 | 398 | 0.0025 | -17 | c.-5_ others(22): Show |
p.Met others(3): Show |
TUBB3 | ENSG00000258947.8 | transcript | ENST00000315491.12 | protein_coding | 1/4 | 56/1706 | 1/1353 | 1/450 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
UBXN11_chr1_26277282_26311636 | 26282374 | ACCGGGAC others(21): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0000 | a0000c0035 | a0000c0035t0003 | a0000c0035t0003g0203 | 1 | 370 | 0.0027 | -28 | c.146 others(37): Show |
p.Pro others(5): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1567/1660 | 1460/1563 | 487/520 | chr1 | TogoVar | ||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGC | start_lost others(1): Show |
HIGH | HG00741.hp2 HG01167.hp1 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(1): Show | a0001c0001t0015g0111a0001c0001t0015g0112a0001c0001t0015g0139others(10): Show | 13 | 250 | 0.0520 | 6 | c.-6_ others(11): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | ||
UTP14A_chrX_129901164_129934752 | 129921465 | GA | G | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0113 | 1 | 273 | 0.0037 | -1 | c.122 others(5): Show |
p.Glu others(5): Show |
UTP14A | ENSG00000156697.13 | transcript | ENST00000394422.8 | protein_coding | 11/15 | 1274/2507 | 1227/2316 | 409/771 | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843207 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0037 | a0037c0036 | a0037c0036t0018 | a0037c0036t0018g0015 | 1 | 341 | 0.0029 | 1 | c.5du others(2): Show |
p.Ser others(3): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 1/2 | 39/781 | 6/621 | 2/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VCX_chrX_7838171_7849143 | 7843256 | GA | G | frameshift_variant | HIGH | NA19076.hp1 | a0037 | a0037c0036 | a0037c0036t0018 | a0037c0036t0018g0015 | 1 | 341 | 0.0029 | -1 | c.56d others(3): Show |
p.Lys others(4): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 1/2 | 89/781 | 56/621 | 19/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VCX_chrX_7838171_7849143 | 7843614 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0037 | a0037c0036 | a0037c0036t0018 | a0037c0036t0018g0015 | 1 | 341 | 0.0029 | 1 | c.222 others(4): Show |
p.Gly others(4): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 256/781 | 223/621 | 75/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VCX_chrX_7838171_7849143 | 7843743 | G | GT | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0037 | a0037c0036 | a0037c0036t0018 | a0037c0036t0018g0015 | 1 | 341 | 0.0029 | 1 | c.348 others(8): Show |
p.Glu others(5): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 382/781 | 349/621 | 117/206 | chrX | TogoVar | ||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0012 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004a0004c0004t0001g0009a0004c0004t0001g0048others(10): Show | 56 | 446 | 0.1256 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | TogoVar | ||
WAS_chrX_48678799_48696427 | 48688673 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0012 | 1 | 274 | 0.0037 | 1 | c.950 others(4): Show |
p.Pro others(5): Show |
WAS | ENSG00000015285.12 | transcript | ENST00000376701.5 | protein_coding | 10/12 | 1006/1829 | 951/1509 | 317/502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
WAS_chrX_48678799_48696427 | 48688931 | A | ACC | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0012 | 1 | 274 | 0.0037 | 2 | c.120 others(11): Show |
p.Pro others(5): Show |
WAS | ENSG00000015285.12 | transcript | ENST00000376701.5 | protein_coding | 10/12 | 1261/1829 | 1206/1509 | 402/502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
WAS_chrX_48678799_48696427 | 48689004 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0012 | 1 | 274 | 0.0037 | -1 | c.128 others(5): Show |
p.Pro others(5): Show |
WAS | ENSG00000015285.12 | transcript | ENST00000376701.5 | protein_coding | 10/12 | 1335/1829 | 1280/1509 | 427/502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZCCHC13_chrX_74299180_74310034 | 74304476 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0000 | 1 | 254 | 0.0039 | -1 | c.213 others(4): Show |
p.Arg others(4): Show |
ZCCHC13 | ENSG00000187969.6 | transcript | ENST00000339534.4 | protein_coding | 1/1 | 300/855 | 213/501 | 71/166 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZFP92_chrX_153406472_153431481 | 153420828 | C | CG | frameshift_variant | HIGH | HG02622.hp1 NA19076.hp1 |
a0004a0005 | a0004c0007a0005c0008 | a0004c0007t0021a0005c0008t0098 | a0004c0007t0021g0057a0005c0008t0098g0037 | 2 | 329 | 0.0061 | 1 | c.453 others(4): Show |
p.Tyr others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 753/6403 | 454/1251 | 152/416 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZFP92_chrX_153406472_153431481 | 153421054 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.679 others(4): Show |
p.Gln others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 979/6403 | 680/1251 | 227/416 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZFP92_chrX_153406472_153431481 | 153421077 | C | CCG | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 2 | c.700 others(9): Show |
p.Arg others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1000/6403 | 701/1251 | 234/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421162 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.785 others(8): Show |
p.Pro others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1085/6403 | 786/1251 | 262/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421331 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.954 others(8): Show |
p.Pro others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1254/6403 | 955/1251 | 319/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421377 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.100 others(10): Show |
p.Gly others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1300/6403 | 1001/1251 | 334/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421450 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.107 others(10): Show |
p.Arg others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1373/6403 | 1074/1251 | 358/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421453 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 1 | c.107 others(10): Show |
p.Arg others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1376/6403 | 1077/1251 | 359/416 | chrX | TogoVar | ||
ZFP92_chrX_153406472_153431481 | 153421576 | G | GC | frameshift_variant | HIGH | HG02738.hp1 NA19058.hp1 NA19076.hp1 |
a0000a0005 | a0000c0005a0005c0008 | a0000c0005t0025a0000c0005t0026a0005c0008t0098 | a0000c0005t0025g0003a0000c0005t0026g0090a0005c0008t0098g0037 | 3 | 329 | 0.0091 | 1 | c.120 others(5): Show |
p.Arg others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1505/6403 | 1206/1251 | 402/416 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZFP92_chrX_153406472_153431481 | 153421584 | C | CAG | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0008 | a0005c0008t0098 | a0005c0008t0098g0037 | 1 | 329 | 0.0030 | 2 | c.120 others(11): Show |
p.Arg others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 1507/6403 | 1208/1251 | 403/416 | chrX | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | ||
ZNF157_chrX_47365578_47419498 | 47412396 | G | GT | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0009 | a0005c0009t0006 | a0005c0009t0006g0258 | 1 | 297 | 0.0034 | 1 | c.325 others(4): Show |
p.Ser others(5): Show |
ZNF157 | ENSG00000147117.8 | transcript | ENST00000377073.4 | protein_coding | 4/4 | 417/2516 | 326/1521 | 109/506 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar | ||
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0015others(157): Show | 220 | 378 | 0.5820 | -2 | c.9_1 others(6): Show |
p.Cys others(3): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 2/5 | 83/4746 | 9/1608 | 3/535 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 228 | 476 | 0.4790 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF681_chr19_23734195_23763891 | 23744939 | CCA | C | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0003t0026others(2): Show | a0003c0003t0001g0005a0003c0003t0001g0027a0003c0003t0001g0029others(26): Show | 40 | 394 | 0.1015 | -2 | c.609 others(9): Show |
p.Cys others(5): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 752/6497 | 609/1938 | 203/645 | chr19 | TogoVar |