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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM90A9_chr8_7756330_7769340 | 7762715 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0018a0003c0003others(19): Show | a0001c0001t0000a0001c0018t0000a0003c0003t0000others(19): Show | a0001c0001t0000g0001a0001c0001t0000g0003a0001c0001t0000g0013others(35): Show | 63 | 92 | 0.6848 | 0 | c.432 others(5): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FGFR3_chr4_1788293_1813867 | 1799521 | CAGGTGAG others(24): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18974.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0162 | 1 | 380 | 0.0026 | -31 | c.379 others(41): Show |
p.Asp others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 3/18 | 654/4301 | 379/2421 | 127/806 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0006a0010a0012others(22): Show | a0006c0006a0006c0136a0010c0010others(25): Show | a0006c0006t0001a0006c0136t0001a0010c0010t0001others(25): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0010c0010t0001g0026others(32): Show | 58 | 426 | 0.1362 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154348892 | TC | T | frameshift_variant | HIGH | NA18974.hp1 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0065 | 1 | 279 | 0.0036 | -1 | c.790 others(5): Show |
p.Asp others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 48/48 | 8145/8507 | 7900/7944 | 2634/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154349012 | AC | A | frameshift_variant | HIGH | NA18974.hp1 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0065 | 1 | 279 | 0.0036 | -1 | c.778 others(5): Show |
p.Val others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 48/48 | 8025/8507 | 7780/7944 | 2594/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154350977 | G | GC | frameshift_variant | HIGH | NA18974.hp1 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0065 | 1 | 279 | 0.0036 | 1 | c.708 others(5): Show |
p.Ala others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 44/48 | 7332/8507 | 7087/7944 | 2363/2647 | chrX | TogoVar | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FRMPD3_chrX_107444652_107610251 | 107564885 | AG | A | frameshift_variant others(1): Show |
HIGH | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | -1 | c.111 others(5): Show |
p.Asp others(5): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 12/15 | 1478/7573 | 1117/5334 | 373/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GABRE_chrX_151948124_151979676 | 151954755 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0264 | 1 | 326 | 0.0031 | 1 | c.146 others(5): Show |
p.Val others(5): Show |
GABRE | ENSG00000102287.19 | transcript | ENST00000370328.4 | protein_coding | 9/9 | 1517/3149 | 1466/1521 | 489/506 | chrX | TogoVar | ||
GATA1_chrX_48781590_48799311 | 48793204 | CA | C | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0041 | 1 | 268 | 0.0037 | -1 | c.779 others(4): Show |
p.Asn others(5): Show |
GATA1 | ENSG00000102145.16 | transcript | ENST00000376670.9 | protein_coding | 5/6 | 854/1464 | 779/1242 | 260/413 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135639292 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18952.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 436 | 0.0046 | 0 | c.-7+ others(4): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136637 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA18974.hp2 | a0033 | a0033c0061 | a0033c0061t0001 | a0033c0061t0001g0104 | 1 | 204 | 0.0049 | -55 | c.40_ others(60): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 185/3822 | 40/2007 | 14/668 | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466823 | T | C | stop_lost others(1): Show |
HIGH | HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show |
a0000 | a0000c0008a0000c0010a0000c0012others(9): Show | a0000c0008t0001a0000c0010t0002a0000c0012t0001others(9): Show | a0000c0008t0001g0002a0000c0008t0001g0012a0000c0008t0001g0018others(16): Show | 30 | 226 | 0.1327 | 0 | c.256 others(4): Show |
p.Ter others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2654/4401 | 2563/2565 | 855/854 | chr15 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | ||
GPKOW_chrX_49108407_49128735 | 49113750 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0053 | 1 | 276 | 0.0036 | 1 | c.130 others(5): Show |
p.His others(5): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 11/11 | 1314/1658 | 1301/1431 | 434/476 | chrX | TogoVar | ||
GPR174_chrX_79139688_79180318 | 79171671 | CT | C | frameshift_variant | HIGH | NA18974.hp2 | a0005 | a0005c0005 | a0005c0005t0060 | a0005c0005t0060g0155 | 1 | 315 | 0.0032 | -1 | c.666 others(4): Show |
p.Gly others(5): Show |
GPR174 | ENSG00000147138.3 | transcript | ENST00000645147.2 | protein_coding | 3/3 | 1849/5494 | 666/1002 | 222/333 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSC2_chr22_19141993_19155292 | 19149662 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18974.hp2 NA18975.hp1 NA18997.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 5 | 470 | 0.0106 | 0 | c.513 others(5): Show |
GSC2 | ENSG00000063515.3 | transcript | ENST00000086933.3 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
GSPT2_chrX_51738442_51751232 | 51743716 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | 1 | c.92d others(3): Show |
p.Val others(4): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 278/2791 | 93/1887 | 31/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51743984 | TCGCTTGA others(7): Show |
T | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | -14 | c.359 others(21): Show |
p.Ser others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 544/2791 | 359/1887 | 120/628 | chrX | TogoVar | ||
GSPT2_chrX_51738442_51751232 | 51744026 | GA | G | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | -1 | c.402 others(4): Show |
p.Glu others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 587/2791 | 402/1887 | 134/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51744168 | A | AG | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | 1 | c.544 others(4): Show |
p.Glu others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 730/2791 | 545/1887 | 182/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51744186 | GA | G | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | -1 | c.564 others(4): Show |
p.Lys others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 749/2791 | 564/1887 | 188/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51744207 | T | TAATACAA others(7): Show |
frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | 14 | c.582 others(21): Show |
p.Pro others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 768/2791 | 583/1887 | 195/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51744424 | T | TA | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | 1 | c.802 others(4): Show |
p.Thr others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 988/2791 | 803/1887 | 268/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51744521 | A | AT | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | 1 | c.897 others(4): Show |
p.Gly others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 1083/2791 | 898/1887 | 300/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GSPT2_chrX_51738442_51751232 | 51745312 | CA | C | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0000 | 1 | 312 | 0.0032 | -1 | c.169 others(5): Show |
p.Lys others(5): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 1/1 | 1877/2791 | 1692/1887 | 564/628 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
HAUS7_chrX_153442668_153475576 | 153470478 | G | GC | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0178 | 1 | 321 | 0.0031 | 1 | c.79d others(3): Show |
p.Ala others(4): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 1/10 | 98/1306 | 79/1077 | 27/358 | chrX | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
HSD17B10_chrX_53426261_53439370 | 53431455 | G | GA | frameshift_variant | HIGH | NA18974.hp1 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0008 | 1 | 280 | 0.0036 | 1 | c.734 others(4): Show |
p.Leu others(5): Show |
HSD17B10 | ENSG00000072506.14 | transcript | ENST00000168216.11 | protein_coding | 6/6 | 759/954 | 734/786 | 245/261 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53559363 | T | TGG | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | 2 | c.790 others(11): Show |
p.Ser others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 57/84 | 8298/14731 | 7905/13125 | 2635/4374 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53559455 | CG | C | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | -1 | c.781 others(5): Show |
p.Arg others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 57/84 | 8206/14731 | 7813/13125 | 2605/4374 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53560245 | G | GT | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | 1 | c.767 others(5): Show |
p.Thr others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/84 | 8071/14731 | 7678/13125 | 2560/4374 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53560256 | AT | A | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | -1 | c.766 others(5): Show |
p.Asn others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/84 | 8060/14731 | 7667/13125 | 2556/4374 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53562841 | G | GGT | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | 2 | c.719 others(11): Show |
p.Asn others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/84 | 7586/14731 | 7193/13125 | 2398/4374 | chrX | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53564572 | A | AC | splice_donor_variant others(1): Show |
HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | 1 | c.702 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53564635 | GC | G | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0181 | 1 | 214 | 0.0047 | -1 | c.696 others(5): Show |
p.Ala others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/84 | 7360/14731 | 6967/13125 | 2323/4374 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149498109 | T | A | stop_gained others(1): Show |
HIGH | NA18974.hp1 | a0011 | a0011c0013 | a0011c0013t0042 | a0011c0013t0042g0155 | 1 | 303 | 0.0033 | 0 | c.706 others(3): Show |
p.Lys others(4): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 5/9 | 875/7580 | 706/1653 | 236/550 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149498121 | A | AG | frameshift_variant | HIGH | NA18974.hp1 | a0011 | a0011c0013 | a0011c0013t0042 | a0011c0013t0042g0155 | 1 | 303 | 0.0033 | 1 | c.693 others(4): Show |
p.Phe others(5): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 5/9 | 862/7580 | 693/1653 | 231/550 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149498224 | AG | A | frameshift_variant | HIGH | NA18974.hp1 | a0011 | a0011c0013 | a0011c0013t0042 | a0011c0013t0042g0155 | 1 | 303 | 0.0033 | -1 | c.590 others(4): Show |
p.Pro others(5): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 5/9 | 759/7580 | 590/1653 | 197/550 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149498295 | GC | G | frameshift_variant | HIGH | NA18974.hp1 | a0011 | a0011c0013 | a0011c0013t0042 | a0011c0013t0042g0155 | 1 | 303 | 0.0033 | -1 | c.519 others(4): Show |
p.Pro others(5): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 5/9 | 688/7580 | 519/1653 | 173/550 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149503469 | G | GCT | frameshift_variant | HIGH | NA18974.hp1 | a0011 | a0011c0013 | a0011c0013t0042 | a0011c0013t0042g0155 | 1 | 303 | 0.0033 | 2 | c.259 others(9): Show |
p.Ser others(4): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 3/9 | 429/7580 | 260/1653 | 87/550 | chrX | TogoVar |