| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PARP9_chr3_122522924_122569300 | 122536282 | CCATCATT others(7): Show |
C | frameshift_variant | HIGH | NA19076.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0331 | 1 | 436 | 0.0023 | -14 | c.195 others(23): Show |
p.Lys others(5): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 10/11 | 2110/3045 | 1952/2460 | 651/819 | chr3 | TogoVar | ||
| PASD1_chrX_151558675_151681739 | 151648666 | AC | A | frameshift_variant | HIGH | NA19062.hp1 | a0011 | a0011c0022 | a0011c0022t0003 | a0011c0022t0003g0162 | 1 | 221 | 0.0045 | -1 | c.684 others(4): Show |
p.Ala others(5): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/16 | 876/3110 | 684/2322 | 228/773 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PATZ1_chr22_31320804_31351346 | 31344355 | CTGGCAGA others(9): Show |
C | frameshift_variant | HIGH | NA19089.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0138 | 1 | 386 | 0.0026 | -16 | c.123 others(25): Show |
p.Lys others(5): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 1991/3895 | 1232/2064 | 411/687 | chr22 | TogoVar | ||
| PATZ1_chr22_31320804_31351346 | 31345102 | A | AG | frameshift_variant | HIGH | HG01261.hp2 HG02080.hp1 HG02738.hp2 others(9): Show |
a0003a0004 | a0003c0004a0003c0005a0004c0008 | a0003c0004t0002a0003c0005t0003a0003c0005t0004others(3): Show | a0003c0004t0002g0021a0003c0004t0002g0059a0003c0004t0002g0060others(7): Show | 12 | 386 | 0.0311 | 1 | c.500 others(4): Show |
p.Ala others(5): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 1244/3895 | 500/2064 | 167/687 | chr22 | TogoVar | ||
| PATZ1_chr22_31320804_31351346 | 31345592 | A | AC | frameshift_variant | HIGH | HG02055.hp1 HG04204.hp1 NA18956.hp1 others(3): Show |
a0004a0005 | a0004c0007a0004c0008a0005c0009 | a0004c0007t0001a0004c0007t0002a0004c0007t0003others(2): Show | a0004c0007t0001g0057a0004c0007t0002g0056a0004c0007t0003g0143others(3): Show | 6 | 386 | 0.0155 | 1 | c.10d others(3): Show |
p.Val others(3): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 754/3895 | 10/2064 | 4/687 | chr22 | TogoVar | ||
| PBDC1_chrX_76168062_76183314 | 76173639 | T | TA | frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 293 | 0.0034 | 1 | c.86d others(3): Show |
p.Tyr others(4): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 2/6 | 164/1185 | 87/702 | 29/233 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0002a0000c0002t0005a0000c0002t0009others(3): Show | a0000c0002t0002g0000a0000c0002t0005g0000a0000c0002t0009g0000others(3): Show | 90 | 384 | 0.2344 | 1 | c.349 others(4): Show |
p.Leu others(5): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 445/2506 | 349/408 | 117/135 | chr6 | TogoVar | ||
| PBX4_chr19_19556713_19623687 | 19570813 | GAATGCCA others(18): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18946.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0053 | 1 | 376 | 0.0027 | -25 | c.194 others(34): Show |
p.Val others(4): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 3/8 | 271/1495 | 194/1125 | 65/374 | chr19 | TogoVar | ||
| PCARE_chr2_29056695_29079523 | 29073693 | T | TGTAAGCC others(3): Show |
frameshift_variant | HIGH | NA19072.hp2 | a0023 | a0023c0029 | a0023c0029t0006 | a0023c0029t0006g0062 | 1 | 464 | 0.0022 | 10 | c.568 others(17): Show |
p.Tyr others(5): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 1/2 | 830/7303 | 568/3867 | 190/1288 | chr2 | TogoVar | ||
| PCDH15_chr10_53797771_54806231 | 53806782 | C | CAAATGTA others(6): Show |
frameshift_variant | HIGH | HG01167.hp1 | a0026 | a0026c0033 | a0026c0033t0017 | a0026c0033t0017g0023 | 1 | 102 | 0.0098 | 13 | c.500 others(22): Show |
p.Ala others(6): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 38/38 | 5354/9366 | 5019/5223 | 1673/1740 | chr10 | TogoVar | ||
| PCDH15_chr10_53816099_54806231 | 53822028 | A | ACATGTTA others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp1 | a0031 | a0031c0032 | a0031c0032t0001 | a0031c0032t0001g0072 | 1 | 94 | 0.0106 | 25 | c.567 others(34): Show |
p.Tyr others(6): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 6032/6962 | 5697/5868 | 1899/1955 | chr10 | TogoVar | ||
| PCDH19_chrX_100286644_100415273 | 100402768 | C | CG | frameshift_variant | HIGH | NA18985.hp1 | a0004 | a0004c0011 | a0004c0011t0014 | a0004c0011t0014g0168 | 1 | 281 | 0.0036 | 1 | c.237 others(5): Show |
p.Arg others(5): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 3/6 | 4047/9756 | 2371/3447 | 791/1148 | chrX | TogoVar | ||
| PCDHA12_chr5_140870308_141017347 | 140877166 | TGCTGGCG others(6): Show |
T | frameshift_variant | HIGH | NA18962.hp1 | a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0157 | 1 | 260 | 0.0039 | -13 | c.170 others(22): Show |
p.Thr others(5): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/4 | 1866/5401 | 1701/2826 | 567/941 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0005a0012a0018 | a0005c0005a0012c0010a0018c0017 | a0005c0005t0001a0012c0010t0001a0018c0017t0001 | a0005c0005t0001g0001a0005c0005t0001g0005a0005c0005t0001g0006others(12): Show | 15 | 258 | 0.0581 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | ||
| PCDHB10_chr5_141187353_141200647 | 141187378 | CTGGGGAG others(5227): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19088.hp1 | a0032 | a0032c0054 | a0032c0054t0011 | a0032c0054t0011g0000 | 1 | 456 | 0.0022 | -5234 | c.-51 others(8): Show |
p.Met others(3): Show |
PCDHB10 | ENSG00000120324.9 | transcript | ENST00000239446.6 | protein_coding | 1/1 | 1/2403 | 1/800 | chr5 | TogoVar | |||
| PCDHB10_chr5_141187353_141200647 | 141188559 | AAGCTGAG others(5227): Show |
A | frameshift_variant others(1): Show |
HIGH | HG03098.hp2 | a0033 | a0033c0023 | a0033c0023t0010 | a0033c0023t0010g0000 | 1 | 456 | 0.0022 | -5234 | c.-39 others(10): Show |
p.Met others(3): Show |
PCDHB10 | ENSG00000120324.9 | transcript | ENST00000239446.6 | protein_coding | 1/1 | 1/2403 | 1/800 | chr5 | TogoVar | |||
| PCDHB1_chr5_141046374_141064346 | 141051897 | CCGGAGAG others(60): Show |
C | frameshift_variant | HIGH | HG00140.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0000 | 1 | 422 | 0.0024 | -67 | c.431 others(74): Show |
p.Glu others(5): Show |
PCDHB1 | ENSG00000171815.6 | transcript | ENST00000306549.6 | protein_coding | 1/1 | 528/7973 | 431/2457 | 144/818 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHB2_chr5_141089615_141103703 | 141096905 | CTCGGTGC others(5846): Show |
C | frameshift_variant others(4): Show |
HIGH | HG03579.hp1 | a0000 | a0000c0014 | a0000c0014t0009 | a0000c0014t0009g0000 | 1 | 418 | 0.0024 | -5853 | c.211 others(10): Show |
p.Ser others(5): Show |
PCDHB2 | ENSG00000112852.7 | transcript | ENST00000194155.7 | protein_coding | 1/1 | 2292/4089 | 2116/2397 | 706/798 | chr5 | TogoVar | ||
| PCDHB6_chr5_141145057_141158287 | 141151851 | ACAGACCG others(5740): Show |
A | frameshift_variant others(4): Show |
HIGH | NA19030.hp1 NA19240.hp2 |
a0000 | a0000c0020 | a0000c0020t0013 | a0000c0020t0013g0000 | 2 | 464 | 0.0043 | -5747 | c.159 others(10): Show |
p.Thr others(5): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 1/1 | 1796/3231 | 1595/2385 | 532/794 | chr5 | TogoVar | ||
| PCDHB8_chr5_141172790_141185539 | 141179831 | G | GAACGCCT others(5196): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0019 | a0019c0039 | a0019c0039t0001 | a0019c0039t0001g0000 | 1 | 414 | 0.0024 | 5203 | c.184 others(5212): Show |
p.Cys others(5): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHB9_chr5_141182161_141196541 | 141187378 | CTGGGGAG others(5227): Show |
C | frameshift_variant others(4): Show |
HIGH | NA19088.hp1 | a0000 | a0000c0024 | a0000c0024t0028 | a0000c0024t0028g0000 | 1 | 458 | 0.0022 | -5234 | c.61_ others(8): Show |
p.Trp others(4): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 219/4381 | 61/2394 | 21/797 | chr5 | TogoVar | ||
| PCDHGA8_chr5_141387633_141517975 | 141393331 | GC | G | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(42): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(4): Show | a0003c0003t0001g0162a0003c0003t0001g0256a0003c0003t0001g0270others(42): Show | 45 | 302 | 0.1490 | -1 | c.522 others(4): Show |
p.Asn others(5): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/4 | 703/4782 | 522/2799 | 174/932 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCNX3_chr11_65610776_65642439 | 65618690 | GTACTGAC others(15): Show |
G | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0036 | a0011c0036t0009 | a0011c0036t0009g0060 | 1 | 396 | 0.0025 | -22 | c.133 others(31): Show |
p.Thr others(5): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 6/35 | 1866/7102 | 1330/6105 | 444/2034 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| PCSK1N_chrX_48826096_48840610 | 48831408 | A | AC | frameshift_variant | HIGH | NA18964.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0056 | 1 | 314 | 0.0032 | 1 | c.634 others(4): Show |
p.Val others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 3/3 | 712/1025 | 634/783 | 212/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48831930 | C | CG | frameshift_variant | HIGH | NA18949.hp2 NA19076.hp1 |
a0004a0007 | a0004c0006a0007c0008 | a0004c0006t0002a0007c0008t0002 | a0004c0006t0002g0053a0007c0008t0002g0052 | 2 | 314 | 0.0064 | 1 | c.525 others(4): Show |
p.Ala others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 603/1025 | 525/783 | 175/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48831942 | C | CG | frameshift_variant | HIGH | NA18972.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0034 | 1 | 314 | 0.0032 | 1 | c.513 others(4): Show |
p.Asp others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 591/1025 | 513/783 | 171/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48831975 | C | CG | frameshift_variant | HIGH | NA18978.hp1 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0039 | 1 | 314 | 0.0032 | 1 | c.480 others(4): Show |
p.Ala others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 558/1025 | 480/783 | 160/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48831987 | C | CG | frameshift_variant | HIGH | NA18972.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0034 | 1 | 314 | 0.0032 | 1 | c.468 others(4): Show |
p.Ala others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 546/1025 | 468/783 | 156/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48832068 | C | CG | frameshift_variant | HIGH | NA18978.hp1 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0039 | 1 | 314 | 0.0032 | 1 | c.387 others(4): Show |
p.Asp others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 465/1025 | 387/783 | 129/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48832106 | C | CG | frameshift_variant | HIGH | NA18949.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0053 | 1 | 314 | 0.0032 | 1 | c.349 others(4): Show |
p.Arg others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 427/1025 | 349/783 | 117/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48832244 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0057 | 1 | 314 | 0.0032 | 1 | c.211 others(4): Show |
p.Ala others(4): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 289/1025 | 211/783 | 71/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48835442 | C | CG | frameshift_variant | HIGH | HG02897.hp2 | a0011 | a0011c0005 | a0011c0005t0001 | a0011c0005t0001g0025 | 1 | 314 | 0.0032 | 1 | c.90d others(3): Show |
p.Ala others(4): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/3 | 168/1025 | 90/783 | 30/260 | chrX | TogoVar | ||
| PCSK1N_chrX_48826096_48840610 | 48835505 | G | GC | frameshift_variant | HIGH | HG01192.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0064 | 1 | 314 | 0.0032 | 1 | c.27d others(3): Show |
p.Pro others(4): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/3 | 105/1025 | 27/783 | 9/260 | chrX | TogoVar | ||
| PCSK6_chr15_101298933_101494707 | 101489563 | G | GGCGCCCC others(12): Show |
frameshift_variant | HIGH | NA18967.hp2 | a0018 | a0018c0066 | a0018c0066t0002 | a0018c0066t0002g0323 | 1 | 336 | 0.0030 | 19 | c.107 others(26): Show |
p.Pro others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 144/4272 | 107/2910 | 36/969 | chr15 | TogoVar | ||
| PCSK6_chr15_101298933_101494707 | 101489575 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(8): Show |
a0005a0007 | a0005c0026a0005c0027a0005c0069others(5): Show | a0005c0026t0001a0005c0026t0015a0005c0027t0001others(6): Show | a0005c0026t0001g0331a0005c0026t0015g0332a0005c0027t0001g0330others(8): Show | 11 | 336 | 0.0327 | 1 | c.95d others(3): Show |
p.Ala others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | ||
| PCSK6_chr15_101298933_101494707 | 101489575 | G | GCCCCCCG others(12): Show |
frameshift_variant | HIGH | HG02148.hp2 | a0021 | a0021c0072 | a0021c0072t0001 | a0021c0072t0001g0335 | 1 | 336 | 0.0030 | 19 | c.77_ others(24): Show |
p.Ala others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | ||
| PCSK6_chr15_101298933_101494707 | 101489575 | G | GCCCCCCG others(13): Show |
frameshift_variant | HIGH | NA19067.hp2 | a0020 | a0020c0073 | a0020c0073t0001 | a0020c0073t0001g0336 | 1 | 336 | 0.0030 | 20 | c.76_ others(25): Show |
p.Gly others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | ||
| PCYT1B_chrX_24553087_24652347 | 24562408 | C | CG | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0075 | 1 | 260 | 0.0039 | 1 | c.994 others(4): Show |
p.Arg others(5): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 8/8 | 1236/5558 | 994/1110 | 332/369 | chrX | TogoVar | ||
| PCYT1B_chrX_24553087_24652347 | 24619082 | G | GT | frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0045 | 1 | 260 | 0.0039 | 1 | c.119 others(8): Show |
p.Leu others(4): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 2/8 | 361/5558 | 119/1110 | 40/369 | chrX | TogoVar | ||
| PDCD1_chr2_241844884_241863894 | 241858827 | T | TGGGATCT others(52): Show |
frameshift_variant | HIGH | NA19080.hp2 | a0005 | a0005c0014 | a0005c0014t0002 | a0005c0014t0002g0124 | 1 | 407 | 0.0025 | 59 | c.11_ others(64): Show |
p.Gln others(3): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1/5 | 67/2097 | 11/867 | 4/288 | chr2 | TogoVar | ||
| PDE3B_chr11_14638804_14877044 | 14644252 | GCGGCCGC others(3): Show |
G | frameshift_variant | HIGH | NA19002.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0109 | 1 | 332 | 0.0030 | -10 | c.183 others(17): Show |
p.Pro others(4): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/16 | 455/5995 | 183/3339 | 61/1112 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| PDE6B_chr4_620573_675782 | 654806 | G | GTGTCTTC others(15): Show |
frameshift_variant | HIGH | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 | 1 | 308 | 0.0033 | 22 | c.928 others(31): Show |
p.Tyr others(5): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 6/22 | 995/3294 | 941/2565 | 314/854 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| PDK3_chrX_24460286_24539422 | 24465488 | G | GT | frameshift_variant | HIGH | NA18974.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0007 | 1 | 258 | 0.0039 | 1 | c.33_ others(6): Show |
p.Val others(4): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 1/11 | 204/1741 | 34/1221 | 12/406 | chrX | TogoVar | ||
| PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005a0002c0003t0001g0041a0002c0003t0001g0054others(37): Show | 42 | 380 | 0.1105 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
| PDLIM2_chr8_22575475_22599298 | 22593771 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01192.hp2 others(8): Show |
a0004a0005a0011 | a0004c0006a0004c0009a0005c0011others(2): Show | a0004c0006t0001a0004c0006t0002a0004c0009t0001others(3): Show | a0004c0006t0001g0004a0004c0006t0001g0216a0004c0006t0002g0165others(8): Show | 11 | 380 | 0.0290 | 1 | c.924 others(4): Show |
p.Gly others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1055/1577 | 925/1059 | 309/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
| PDZD11_chrX_70281595_70294927 | 70288471 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | 1 | c.129 others(4): Show |
p.Leu others(4): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 3/7 | 210/991 | 129/423 | 43/140 | chrX | TogoVar | ||
| PDZD11_chrX_70281595_70294927 | 70289307 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | 1 | c.34d others(3): Show |
p.Val others(4): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 2/7 | 115/991 | 34/423 | 12/140 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153803820 | C | CG | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.186 others(5): Show |
p.Ala others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2106/3761 | 1860/2328 | 620/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153803828 | A | AC | frameshift_variant | HIGH | HG02056.hp1 HG02080.hp2 HG02145.hp1 others(5): Show |
a0002a0003a0004others(1): Show | a0002c0007a0003c0005a0003c0018others(2): Show | a0002c0007t0001a0003c0005t0001a0003c0005t0004others(3): Show | a0002c0007t0001g0037a0002c0007t0001g0081a0003c0005t0001g0095others(5): Show | 8 | 281 | 0.0285 | 1 | c.185 others(5): Show |
p.Val others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2098/3761 | 1852/2328 | 618/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153803872 | G | GC | frameshift_variant | HIGH | NA18988.hp1 | a0010 | a0010c0019 | a0010c0019t0003 | a0010c0019t0003g0050 | 1 | 281 | 0.0036 | 1 | c.180 others(5): Show |
p.His others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2054/3761 | 1808/2328 | 603/775 | chrX | TogoVar |