TABLE 3.
Prioritized Coding Variants Identified in WES Data
| ID | Type | Variant | N | Gene (GWAS Pa) | Brain Exp. | NHLBI Freq. | rsid | Protein Change | PolyPhen | GERP |
|---|---|---|---|---|---|---|---|---|---|---|
| AZW1 | Del (FS) | NC_000001.10:g.6727803_6727804delTC | 4/12 | DNAJC1 (P = .0509) | Low | 0.0000 | rs374290353 | NP_060668.2:p.Glu115fs | NA | NA |
| AZW2 | Ins (FS) | NC_000003.11:g.52559298_52559299insCAAA | 4/12 | NT5DC2 (P = .3050) | High (pn) | 0.0002 | rs745485897 | NP_001127703.1:p.Asp378fs | NA | 5.1 |
| AZW3 | Stop gain (SNV) | NC_000006.11:g.167591956C>T | 7/12 | TCP10L2 (P = .0198) | Medium | 0.0000 | rs2297462 | NP_001138593.1:p.Gln195Ter | NA | NA |
| AZW4 | Stop loss (SNV) | NC_000009.11:g.71152177A>G | 4/12 | TMEM252 (P = .0921) | Low/ medium | 0.0030 | rs147022534 | NP_694969.1:p.Ter171fs | NA | 0.4 |
| AZW5 | Ins | NC_000011.9:g.1651095insGGCTGTGGCTCCGGCTGTGGAGGCCTTGGCTCCGGCTGTGGG | 4/12 | KRTAP5-5 (P = .0163) | NA | 0.0000 | NA | NP_001001480.2:p.Gly9_Cys10insLeuTrpLeuArgLeuTrpArgProTrpLeuArgLeuTrpGly | NA | NA |
| AZW6 | Del (FS) | NC_000019.9:g.13255238delG | 4/12 | STX10 (P = .3610) | Medium (us) | 0.0018 | NA | NP_003756.1:p.Leu246fs | NA | 1.1 |
| AZW7 | Del (FS) | NC_000022.10:g.40161342_40161343delGA | 4/12 | ENTHD1 (P = .4250) | High (us) | 0.0075 | rs200712517 | NP_689725.2:p.Pro369fs | NA | 5.9 |
| AZW8 | Missense (SNV) | NC_000007.13:g.100465824G>A | 4/12 | TRIP6 (P = .4260) | Medium (us) | 0.0205 | rs2437100 | NP_003293.2:p.Arg111Gln | PrD | 4.5 |
| AZW9 | Missense (SNV) | NC_000008.10:g.91953077G>T | 4/12 | NECAB1 (P = .0246) | High (esp. temporal) | 0.0001 | rs115555424 | NP_071746.1:p.Ala271Thr | PrD | 4.4 |
| AZW10 | Missense (SNV) | NC_000009.11:g.124072992G>A | 4/12 | GSN (P = .8910) | Medium (us) | 0.0047 | rs41305623 | NP_000168.1:p.Val179Met | PrD | 5.3 |
| AZW11 | Missense (SNV) | NC_000011.9:g.3700876C>T | 4/12 | NUP98 (P = .9480) | Low/medium | 0.0164 | rs34446357 | NP_057404.2:p.Glu1661Lys | PrD | 5.6 |
| AZW12 | Missense (SNV) | NC_000011.9:g.6629343T>A | 4/12 | ILK (P = .1540) | Low | 0.0001 | rs200336608 | NP_001014794.1:p.Leu53Met | PrD | 3.9 |
| AZW13 | Missense (SNV) | NC_000017.10:g.56355397G>A | 4/12 | MPO (P = .1420) | No | 0.0135 | rs28730837 | NP_000241.1:p.Ala332Val | PoD | 4.3 |
| AZW14 | Missense (SNV) | NC_000018.9:g.25532304T>C | 6/12 | CDH2 (P = .0041) | High (pn) | 0.0266 | rs2289664 | NP_001783.2:p.Asn845Se | PoD | 5.5 |
Brain expression (Brain Exp.) information is based on the combination of the data from the BrainSpan Atlas of the Developing Human Brain (www.brainspan.org), the Human Protein Atlas (www.proteinatlas.org), and the Expression Atlas (www.ebi.ac.uk/gxa/). Del, deletion; FS, frameshift; GERP, Genomic Evolutionary Rate Profiling sequence conservation score; Ins, insertion; N, number of carriers (of 12 individuals); NA, not available; NHLBI Freq., variant frequency in National Heart, Lung, and Blood Institute European American exomes; pn, prenatally; PoD, possibly damaging; PrD, probably damaging; us, ubiquitous; rsid, Single Nucleotide Polymorphism Database submission number.
P value for the HYST gene-based analysis (multivariate, all phenotypes).