Variant | Approved name | Control MAF | Case MAF | Protein change | Mean beta elastic net | Negative beta percentage |
---|---|---|---|---|---|---|
MRPL24 - 1,156708335,C,T | Mitochondrial ribosomal protein L24 | Novel | 0.074% | W54* | −2.78 | 1.00 |
CST4 - 20,23667825,-,C | Cystatin S | 0.0129% | 0.300% | V81fs | −5.09 | 1.00 |
PARD6A - 16,67696278,C,T | Par-6 family cell polarity regulator alpha | 0.0018% | 0.078% | R256* | −1.86 | 1.00 |
TRIOBP - 22,38121788,-,C | TRIO and F-actin binding protein | 0.0059% | 0.471% | S1075fs | −3.64 | 1.00 |
ZNF85 - 19,21132125,C,T | Zinc finger protein 85 | Novel | 0.085% | R205* | −4.36 | 1.00 |
FOXP4 - 6,41553185,A,G | Forkhead box P4 | 0.0018% | 0.091% | K147R | −8.04 | 1.00 |
PKHD1 - 6,51890490,A,C | Polycystic kidney and hepatic disease 1 (autosomal recessive) | Novel | 0.075% | M1373R | −5.33 | 1.00 |
SURF1 - 9,136218808,A,T | Surfeit 1 | Novel | 0.081% | L179Q | −6.49 | 1.00 |
HIST2H2AB - 1,149859084,TT…GT,- | Histone cluster 2, H2ab | Novel | 0.074% | T121fs | −3.59 | 0.97 |
STIM2 - 4,27004586,G,A | Stromal interaction molecule 2 | Novel | 0.081% | V281I | −1.65 | 0.97 |
CPA3 - 3,148597632,C,T | Carboxypeptidase A3 (mast cell) | Novel | 0.074% | R178* | −5.47 | 0.94 |
TMCO3 - 13,114188422,-,G | Transmembrane and coiled-coil domains 3 | 0.0326% | 0.742% | A469fs | −1.93 | 0.93 |
SERPINF2 - 17,1649022,CCTG,- | Serpin peptidase inhibitor, clade F | Novel | 0.080% | A62fs | −1.74 | 0.84 |
PYGL - 14,51383751,G,A | Phosphorylase, glycogen, liver | 0.0037% | 0.149% | R276C | −0.08 | 0.71 |
FNIP2 - 4,159790466,C,A | Folliculin interacting protein 2 | 0.0016% | 0.101% | S893* | −0.86 | 0.58 |
CPPED1 - 16,12758817,G,A | Calcineurin-like phosphoesterase domain containing 1 | Novel | 0.074% | R149* | −0.14 | 0.44 |
OR52B4 - 11,4388943,G,A | Olfactory receptor, family 52, subfamily B, member 4 (gene/pseudogene) | 0.0018% | 0.076% | R195* | 4.81 | 0.09 |
SCN10A - 3,38755496,G,A | Sodium channel, voltage gated, type X alpha subunit | 0.0037% | 0.074% | R1155C | 1.62 | 0.08 |
ZNF683 - 1,26694960,G,A | Zinc finger protein 683 | Novel | 0.089% | R35* | 1.18 | 0.03 |