| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NDUFAF4_chr6_96884315_96902891 | 96897801 | T | C | start_lost | HIGH | HG02976.hp2 | a0003 | a0003c0009 | a0003c0009t0005 | a0003c0009t0005g0069 | 1 | 442 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
NDUFAF4 | ENSG00000123545.6 | transcript | ENST00000316149.8 | protein_coding | 1/3 | 91/2407 | 1/528 | 1/175 | chr6 | TogoVar | ||
| NDUFV3_chr21_42888309_42918299 | 42893336 | G | T | start_lost | HIGH | HG01258.hp2 | a0007 | a0007c0011 | a0007c0011t0009 | a0007c0011t0009g0017 | 1 | 348 | 0.0029 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/4 | 28/5725 | 3/1422 | 1/473 | chr21 | TogoVar | ||
| NEMP1_chr12_57050643_57083791 | 57078744 | A | G | start_lost | HIGH | HG03831.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0056 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NEMP1 | ENSG00000166881.10 | transcript | ENST00000300128.9 | protein_coding | 1/9 | 48/5617 | 2/1335 | 1/444 | chr12 | TogoVar | ||
| NF1_chr17_31089977_31382675 | 31095311 | T | G | start_lost | HIGH | NA18985.hp1 | a0008 | a0008c0014 | a0008c0014t0029 | a0008c0014t0029g0252 | 1 | 252 | 0.0040 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/58 | 335/12373 | 2/8520 | 1/2839 | chr17 | TogoVar | ||
| NF1_chr17_31089977_31382675 | 31095312 | G | A | start_lost | HIGH | NA18985.hp1 | a0008 | a0008c0014 | a0008c0014t0029 | a0008c0014t0029g0252 | 1 | 252 | 0.0040 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/58 | 336/12373 | 3/8520 | 1/2839 | chr17 | TogoVar | ||
| NIT2_chr3_100329757_100366635 | 100334767 | GCAGGTGG others(16): Show |
G | frameshift_variant others(1): Show |
HIGH | HG02683.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0001a0001c0001t0030g0082 | 2 | 396 | 0.0051 | -23 | c.-22 others(28): Show |
p.Met others(3): Show |
NIT2 | ENSG00000114021.12 | transcript | ENST00000394140.9 | protein_coding | 1/10 | 14/7233 | 1/831 | 1/276 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| NMS_chr2_100465482_100488280 | 100470489 | A | G | start_lost | HIGH | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001a0003c0004t0001g0052a0003c0004t0001g0057others(1): Show | 12 | 396 | 0.0303 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
NMS | ENSG00000204640.1 | transcript | ENST00000376865.1 | protein_coding | 1/10 | 8/485 | 1/462 | 1/153 | chr2 | TogoVar | ||
| NMS_chr2_100465482_100488280 | 100470490 | T | C | start_lost | HIGH | HG03098.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 396 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NMS | ENSG00000204640.1 | transcript | ENST00000376865.1 | protein_coding | 1/10 | 9/485 | 2/462 | 1/153 | chr2 | TogoVar | ||
| NOS2_chr17_27751766_27805529 | 27798808 | ATCTCTAT others(12): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0010 | a0010c0030 | a0010c0030t0011 | a0010c0030t0011g0220 | 1 | 402 | 0.0025 | -19 | c.-18 others(24): Show |
p.Met others(3): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 2/27 | 265/4206 | 1/3462 | 1/1153 | chr17 | TogoVar | ||
| NQO1_chr16_69704401_69731560 | 69726438 | A | G | start_lost | HIGH | HG02257.hp2 HG02486.hp1 HG02896.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 4 | 444 | 0.0090 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 1/6 | 123/2521 | 2/825 | 1/274 | chr16 | TogoVar | ||
| NR0B2_chr1_26906489_26918975 | 26913940 | T | C | start_lost | HIGH | HG01109.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0015 | 1 | 316 | 0.0032 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
NR0B2 | ENSG00000131910.5 | transcript | ENST00000254227.4 | protein_coding | 1/2 | 36/1165 | 1/774 | 1/257 | chr1 | TogoVar | ||
| NR4A1_chr12_52046442_52064503 | 52054330 | T | A | start_lost | HIGH | NA18968.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0101 | 1 | 422 | 0.0024 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NR4A1 | ENSG00000123358.20 | transcript | ENST00000394825.6 | protein_coding | 2/7 | 131/2485 | 2/1797 | 1/598 | chr12 | TogoVar | ||
| NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
| NXPE1_chr11_114513934_114564881 | 114551200 | A | G | start_lost | HIGH | HG03453.hp2 | a0010 | a0010c0012 | a0010c0012t0004 | a0010c0012t0004g0068 | 1 | 360 | 0.0028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/9 | 296/4972 | 2/1644 | 1/547 | chr11 | TogoVar | ||
| ODF4_chr17_8334840_8351046 | 8340053 | T | C | start_lost | HIGH | NA19030.hp1 | a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0062 | 1 | 432 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ODF4 | ENSG00000184650.11 | transcript | ENST00000328248.7 | protein_coding | 1/3 | 214/1180 | 2/774 | 1/257 | chr17 | TogoVar | ||
| OIP5_chr15_41304273_41337591 | 41332540 | GCCGCAGC others(18): Show |
G | frameshift_variant others(1): Show |
HIGH | HG01496.hp2 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0036 | 1 | 356 | 0.0028 | -25 | c.-4_ others(30): Show |
p.Met others(3): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 1/5 | 51/1201 | 1/690 | 1/229 | chr15 | TogoVar | ||
| OR10G6_chr11_123989163_124000161 | 123995160 | A | G | start_lost | HIGH | NA19030.hp1 NA20129.hp1 |
a0005 | a0005c0009 | a0005c0009t0000 | a0005c0009t0000g0000 | 2 | 464 | 0.0043 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR10G6 | ENSG00000198674.3 | transcript | ENST00000307002.3 | protein_coding | 1/1 | 2/999 | 2/999 | 1/332 | chr11 | TogoVar | ||
| OR13C2_chr9_104599671_104610627 | 104605385 | CGTGGAGG others(5235): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0010 | a0010c0016 | a0010c0016t0000 | a0010c0016t0000g0000 | 1 | 412 | 0.0024 | -5242 | c.-50 others(9): Show |
p.Met others(3): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 242/957 | 1/957 | 1/318 | chr9 | TogoVar | ||
| OR13C5_chr9_104593457_104604413 | 104599104 | TGAGGAAC others(5302): Show |
T | start_lost others(1): Show |
HIGH | NA18968.hp1 NA18981.hp2 NA18991.hp1 |
a0012 | a0012c0010 | a0012c0010t0000 | a0012c0010t0000g0000 | 3 | 424 | 0.0071 | -5309 | c.-50 others(9): Show |
p.Met others(11): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 309/957 | 1/957 | 1/318 | chr9 | TogoVar | ||
| OR13C5_chr9_104593457_104604413 | 104599221 | TCCCCAGA others(5185): Show |
T | start_lost others(1): Show |
HIGH | NA18956.hp1 | a0014 | a0014c0014 | a0014c0014t0000 | a0014c0014t0000g0000 | 1 | 424 | 0.0024 | -5192 | c.-50 others(9): Show |
p.Met others(10): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 192/957 | 1/957 | 1/318 | chr9 | TogoVar | ||
| OR2AP1_chr12_55567468_55580612 | 55574416 | T | C | start_lost | HIGH | HG03669.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0001 | 1 | 478 | 0.0021 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 352/1548 | 2/930 | 1/309 | chr12 | TogoVar | ||
| OR2I1P_chr6_29545407_29562773 | 29550853 | T | C | start_lost | HIGH | HG00673.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0002 | 1 | 469 | 0.0021 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR2I1P | ENSG00000237988.6 | transcript | ENST00000641137.2 | protein_coding | 1/2 | 447/5000 | 2/948 | 1/315 | chr6 | TogoVar | ||
| OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | |||
| OR3A1_chr17_3286017_3303360 | 3292581 | A | G | start_lost | HIGH | NA19060.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0040 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR3A1 | ENSG00000180090.6 | transcript | ENST00000323404.2 | protein_coding | 2/2 | 86/1650 | 2/948 | 1/315 | chr17 | TogoVar | ||
| OR4C13_chr11_49947391_49958419 | 49952424 | T | C | start_lost | HIGH | NA18994.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0000 | 1 | 445 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR4C13 | ENSG00000258817.1 | transcript | ENST00000555099.1 | protein_coding | 1/1 | 34/1029 | 2/930 | 1/309 | chr11 | TogoVar | ||
| OR4C16_chr11_55567128_55578060 | 55572129 | T | A | start_lost | HIGH | NA20300.hp1 | a0013 | a0013c0014 | a0013c0014t0000 | a0013c0014t0000g0000 | 1 | 440 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 2/933 | 2/933 | 1/310 | chr11 | TogoVar | ||
| OR4S1_chr11_48301223_48312152 | 48305936 | TTATTATA others(675): Show |
T | start_lost others(1): Show |
HIGH | HG01346.hp2 HG02735.hp2 NA20129.hp2 |
a0004 | a0004c0003 | a0004c0003t0000 | a0004c0003t0000g0000 | 3 | 426 | 0.0070 | -682 | c.-28 others(8): Show |
p.Met others(11): Show |
OR4S1 | ENSG00000176555.1 | transcript | ENST00000319988.1 | protein_coding | 1/1 | 1/930 | 1/309 | chr11 | TogoVar | |||
| OR51B4_chr11_5296014_5306946 | 5301945 | A | G | start_lost | HIGH | HG02055.hp1 NA18906.hp1 |
a0008 | a0008c0011 | a0008c0011t0000 | a0008c0011t0000g0000 | 2 | 470 | 0.0043 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR51B4 | ENSG00000183251.4 | transcript | ENST00000380224.2 | protein_coding | 1/1 | 2/933 | 2/933 | 1/310 | chr11 | TogoVar | ||
| OR52N4_chr11_5749243_5760958 | 5754737 | TATC | T | start_lost others(1): Show |
HIGH | NA18980.hp1 NA18991.hp2 NA18994.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0001a0001c0001t0010g0001 | 6 | 472 | 0.0127 | -3 | c.-1_ others(7): Show |
p.Met others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 111/1329 | 1/966 | 1/321 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR5P3_chr11_7819818_7835840 | 7825116 | TTCAACAT others(908): Show |
T | frameshift_variant others(2): Show |
HIGH | HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show |
a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0007a0000c0005t0005g0029a0000c0005t0005g0030 | 12 | 422 | 0.0284 | -915 | c.-21 others(10): Show |
p.Met others(3): Show |
OR5P3 | ENSG00000182334.3 | transcript | ENST00000641167.1 | protein_coding | 2/2 | 894/1193 | 1/936 | 1/311 | chr11 | TogoVar | ||
| OR6B2_chr2_240024491_240035429 | 240030287 | ATGAGGAT others(5135): Show |
A | frameshift_variant others(1): Show |
HIGH | NA19001.hp1 | a0019 | a0019c0025 | a0019c0025t0000 | a0019c0025t0000g0000 | 1 | 464 | 0.0022 | -5142 | c.-50 others(9): Show |
p.Met others(3): Show |
OR6B2 | ENSG00000182083.8 | transcript | ENST00000319423.5 | protein_coding | 1/1 | 142/939 | 1/939 | 1/312 | chr2 | TogoVar | ||
| OR6V1_chr7_143047341_143058282 | 143052342 | T | C | start_lost | HIGH | HG02055.hp2 HG02258.hp1 HG02486.hp2 others(7): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 10 | 367 | 0.0273 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR6V1 | ENSG00000225781.2 | transcript | ENST00000418316.2 | protein_coding | 1/1 | 2/942 | 2/942 | 1/313 | chr7 | TogoVar | ||
| OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0000 | a0000c0000 | a0000c0000t0016a0000c0000t0048 | a0000c0000t0016g0017a0000c0000t0016g0097a0000c0000t0048g0098 | 6 | 430 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | TogoVar | ||
| OR8J3_chr11_56129721_56145201 | 56137716 | CATGTCAG others(9): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01169.hp2 | a0009 | a0009c0010 | a0009c0010t0029 | a0009c0010t0029g0044 | 1 | 412 | 0.0024 | -16 | c.-14 others(21): Show |
p.Met others(3): Show |
OR8J3 | ENSG00000167822.3 | transcript | ENST00000642058.1 | protein_coding | 2/2 | 810/3806 | 1/948 | 1/315 | chr11 | TogoVar | ||
| OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
| OTOR_chr20_16743358_16757164 | 16748403 | T | C | start_lost | HIGH | HG00280.hp1 HG01074.hp2 HG01168.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0006 | a0003c0003t0005g0059a0003c0003t0005g0060a0003c0003t0005g0139others(5): Show | 13 | 486 | 0.0268 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OTOR | ENSG00000125879.5 | transcript | ENST00000246081.3 | protein_coding | 1/4 | 46/1477 | 2/387 | 1/128 | chr20 | TogoVar | ||
| OXER1_chr2_42757499_42769135 | 42764060 | C | G | start_lost | HIGH | HG00642.hp2 HG04115.hp1 |
a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0000 | 2 | 426 | 0.0047 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 1/1 | 76/1637 | 3/1155 | 1/384 | chr2 | TogoVar | ||
| PABPN1L_chr16_88858333_88871660 | 88866605 | A | G | start_lost | HIGH | HG01106.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0040 | 1 | 452 | 0.0022 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
PABPN1L | ENSG00000205022.9 | transcript | ENST00000419291.7 | protein_coding | 1/7 | 56/1314 | 2/837 | 1/278 | chr16 | TogoVar | ||
| PADI4_chr1_17303197_17369004 | 17308223 | A | G | start_lost | HIGH | HG04199.hp2 | a0019 | a0019c0032 | a0019c0032t0001 | a0019c0032t0001g0149 | 1 | 372 | 0.0027 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 1/16 | 27/2267 | 1/1992 | 1/663 | chr1 | TogoVar | ||
| PANK2_chr20_3884387_3934887 | 3889432 | T | A | start_lost | HIGH | HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0010others(11): Show | a0001c0003t0001g0034a0001c0003t0004g0001a0001c0003t0004g0002others(39): Show | 46 | 422 | 0.1090 | 0 | c.2T> others(1): Show |
p.Leu others(2): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 46/8020 | 2/1383 | 1/460 | chr20 | 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 | |||
| PCDHB3_chr5_141095473_141108827 | 141096905 | CTCGGTGC others(5846): Show |
C | start_lost others(1): Show |
HIGH | HG03579.hp1 | a0016 | a0016c0025 | a0016c0025t0017 | a0016c0025t0017g0000 | 1 | 424 | 0.0024 | -5853 | c.-37 others(10): Show |
p.Met others(11): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 1/1 | 1/2391 | 1/796 | chr5 | TogoVar | |||
| PCDHB6_chr5_141145057_141158287 | 141150260 | G | A | start_lost | HIGH | NA19085.hp1 | a0024 | a0024c0023 | a0024c0023t0001 | a0024c0023t0001g0000 | 1 | 464 | 0.0022 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 1/1 | 204/3231 | 3/2385 | 1/794 | chr5 | TogoVar | ||
| PDCD2L_chr19_34399399_34431168 | 34404432 | T | C | start_lost | HIGH | HG01515.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 382 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
PDCD2L | ENSG00000126249.8 | transcript | ENST00000246535.4 | protein_coding | 1/7 | 34/1157 | 2/1077 | 1/358 | chr19 | TogoVar | ||
| PDE6G_chr17_81645459_81661542 | 81653305 | T | C | start_lost | HIGH | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0072 | 1 | 434 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 2/4 | 110/988 | 1/264 | 1/87 | chr17 | TogoVar | ||
| PECR_chr2_216033388_216086809 | 216081740 | A | G | start_lost | HIGH | HG01361.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0013 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/8 | 70/1867 | 2/912 | 1/303 | chr2 | TogoVar | ||
| PGM5_chr9_68351611_68536061 | 68357130 | G | A | start_lost | HIGH | HG00423.hp2 NA19003.hp2 |
a0004 | a0004c0009a0004c0010 | a0004c0009t0019a0004c0010t0019 | a0004c0009t0019g0246a0004c0010t0019g0245 | 2 | 246 | 0.0081 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/11 | 520/3626 | 3/1704 | 1/567 | chr9 | TogoVar | ||
| PKP3_chr11_389209_409908 | 394289 | CGCCATGC others(38): Show |
C | start_lost others(1): Show |
HIGH | HG02647.hp2 | a0005 | a0005c0037 | a0005c0037t0005 | a0005c0037t0005g0087 | 1 | 216 | 0.0046 | -45 | c.1_4 others(49): Show |
p.Met others(10): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 1/13 | 85/2817 | 1/2394 | 1/797 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| PLP2_chrX_49166898_49180235 | 49171998 | G | GC | frameshift_variant others(1): Show |
HIGH | NA19062.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0024 | 1 | 260 | 0.0039 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
PLP2 | ENSG00000102007.11 | transcript | ENST00000376327.6 | protein_coding | 1/5 | 104/1103 | 1/459 | 1/152 | INFO_REALIGN_3_PRIME | chrX | TogoVar |