WES results | Variant characteristics | Functional information | Validation | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
ExAC (EU) | ||||||||||||
Gene | Type | Chr:bp (hg19) | Ref/Alt all | dbSNP137 | MAF | n HZ (freq.) | Variant type | AA change | AA length | CADD | Functional | Genetic |
ANKRD30A | CH | 10:37438759 | G/T | x | x | x | stopgain | NM_052997:p.E487X | 1341 | 35.0 | ||
10:37508648 | A/AT | x | 0.0031% | 0 | fs insertion | NM_052997:p.Q1280fs | 1341 | 24.2 | ||||
ARSB | HZ | 5:78281383 | T/TA | rs138279020 | x | x | splicing | NM_198709:c.190-2insT | 533 | 2.2 | S | neuroX |
c11orf21 | HZ | 11:2321829 | C/T | rs74048215 | 0.037% | 0 | stopgain | NM_001142946:p.W69X | 178 | 35.0 | ||
CALML4 | HZ | 15:68497597 | G/A | rs11071990 | 0.75% | 1 (0.00003%) | stopgain | NM_001031733:p.R40X | 120 | 25.9 | ||
CAPS2 | HZ | 12:75687045 | C/CTATTTGAT | x | 0.68% | 4 (0.00012%) | stopgain | NM_001286547:p.L321X | 382 | 33.0 | ||
CD36 | CH | 7:80285955 | C/T | x | 0.0075% | 0 | stopgain | NM_001127444:p.Q74X | 472 | 26.5 | GRIP | |
7:80302705 | C/T | x | 0.011% | 0 | missense | NM_001127444:p.P412S | 472 | 25.9 | ||||
COL6A5 | CH | 3:130132401 | C/T | rs190283135 | 0.12% | 0 | stopgain | NM_001278298:p.Q1559X | 2611 | 38.0 | ||
3:130107827 | G/A | x | 0.32% | 0 | missense | NM_001278298:p.V756M | 2611 | 23.0 | ||||
DIS3 | CH | 13:73355096 | G/A | rs201493043 | 0.0045% | 0 | stopgain | NM_014953:p.Q92X | 958 | 37.0 | Mm | |
13:73333935 | A/G | rs141067458 | 0.22% | 0 | stoploss | NM_014953:p.X959Q | 958 | 14.1 | ||||
FAM71A | HZ | 1:212799882 | A/T | rs143861665 | 0.80% | 2 (0.00006%) | stopgain | NM_153606:p.K555X | 594 | 36.0 | Mm | |
FAM83A | CH | 8:124195352 | G/T | rs148011353 | 0.23% | 2 (0.00006%) | stopgain | NM_032899:p.G86X | 434 | 26.2 | PPMI | |
8:124195506 | T/G | x | x | x | missense | NM_032899:p.V137G | 434 | 25.6 | ||||
GH2 | HZ | 17:61957946 | C/T | rs150668018 | 0.33% | 1 (0.00003%) | stopgain | NM_022557:p.W214X | 256 | 26.8 | ||
GPATCH2L | HZ | 14:76644266 | C/T | rs117516637 | 0.53% | 1 (0.00003%) | stopgain | NM_017972:p.R362X | 482 | 18.8 | Mp,Mm | PPMI |
KALRN | HZ | 3:124303696 | C/T | rs56407180 | 0.39% | 0 | stopgain | NM_007064:p.R10X | 1289 | 37.0 | Mp | |
KCNK16 | HZ | 6:39282816 | G/A | rs138573996 | 0.44% | 2 (0.00006%) | stopgain | NM_001135107:p.Q251X | 322 | 9.5 | Mm | |
MNS1 | CH | 15:56736045 | G/A | x | x | x | stopgain | NM_018365:p.Q232X | 495 | 38.0 | Mm | |
15:56748680 | G/A | x | 0.003% | 0 | stopgain | NM_018365:c.C265T:p.Q89X | 495 | 37.0 | ||||
OR7G3 | HZ | 19:9236969 | G/A | rs61751875 | 0.15% | 1 (0.00003%) | stopgain | NM_001001958:p.R220X | 312 | 35.0 | Mm | |
PCDHA9 | HZ | 5:140229907 | C/G | x | 0.0046% | 0 | stopgain | NM_014005:p.Y609X | 950 | 34.0 | Mm | |
PTCHD3 | HZ | 10:27688101 | G/A | rs142646098 | 0.97% | 6 (0.00018%) | stopgain | NM_001034842:p.R476X | 767 | 34.0 | Mp,Mm | |
PTPRH | CH | 19:55697712 | G/A | rs147881000 | 0.39% | 1 (0.00003%) | stopgain | NM_002842:p.Q887X | 1115 | 36.0 | S,Mm | neuroX |
19:55716715 | C/A | rs201517965 | 0.0030% | 0 | stopgain | NM_002842:p.E200X | 1115 | 26.0 | ||||
PZP | CH | 12:9321534 | G/A | rs145240281 | 0.85% | 4 (0.00012%) | stopgain | NM_002864:p.R680X | 1482 | 32.0 | ||
12:9333626 | G/A | rs117889746 | 0.021% | 0 | stopgain | NM_002864:p.Q598X | 1482 | 36.0 | ||||
SSPO | HZ | 7:149493519 | C/T | rs57595625 | 0.011% | 0 | stopgain | NM_198455:p.Q2199X | 5150 | 10.4 | ||
SVOPL | HZ | 7:138341219 | G/A | rs117871806 | 0.35% | 0 | stopgain | NM_174959:p.R18X | 492 | 38.0 | Mp,Mm | |
TCHHL1 | HZ | 1:152058192 | G/A | rs150014958 | 0.037% | 0 | stopgain | NM_001008536:p.Q656X | 904 | 35.0 | Mp | |
TMEM134 | HZ | 11:67235051 | G/A | rs143199541 | 0.70% | 3 (0.00009%) | stopgain | NM_001078650:p.R84X | 195 | 34.0 | S | |
UHRF1BP1L | HZ | 12:100433523 | T/A | x | x | x | stopgain | NM_015054:p.K1376X | 1464 | 35.0 | Mm | neuroX |
VPS13C | CH | 15:62174851 | C/A | x | x | x | stopgain | NM_017684:p.E3147X | 3628 | 55.0 | S,Mm | neuroX,GWAS |
15:62305257 | C/CTCTG | x | x | x | fs insertion | NM_017684:p.R226fs | 3628 | 27.4 | ||||
ZNF543 | HZ | 19:57838058 | G/A | rs150392165 | 0.60% | 1 (0.00003%) | stopgain | NM_213598:p.W68X | 600 | 25.0 | Mp,Mm |