Table 1.
All mutations identified in the discovery screen, except in OV207
| Sample | Gene | Transcript Accession No. |
Nucleotide (genomic) |
Nucleotide (cDNA) |
Amino acid (protein) |
Mutation type |
Confirmed by Sanger |
|---|---|---|---|---|---|---|---|
| OV208PT | ABCD3 | CCDS749.1 | g.chr1 : 94656651C > T | c.29C > T | p.10A > V | Missense | Yes |
| OV206PT | ACSM2B | CCDS32401.1 | g.chr16 : 20399695C > T | c.1460 > C > T | p.487A > V | Missense | No |
| OV209PT | ADAM22 | CCDS43608.1 | g.chr7 : 87595852G > A | IVS8-1G > A | NA | Splice site | Yes |
| OV204PT | ADCY5 | CCDS3022.1 | g.chr3 : 124554009-12dupATGC | c.1241-44dupGCAT | NA | Frameshift | Yes |
| OV208PT | AK3L1 | CCDS629.1 | g.chr1 : 65463144G > A | IVS4+3G > A | NA | Splice site | Yes |
| OV208PT | AKAP1 | CCDS11594.1 | g.chr17 : 52538770G > A | c.946 > G > A | p.316G > S | Missense | No |
| OV208PT | ARID1A | CCDS285.1 | g.chr1 : 26973548- 51dupCAGC |
c.4243-46dupCAGC | NA | Frameshift | Yes |
| OV202PT | ASCC3 | CCDS5046.1 | g.chr6 : 101207408G > A | c.2902 > C > T | p.968R > C | Missense | No |
| OV208PT | ASTE1 | CCDS3068.1 | g.chr3 : 132215737 delT | c.2224delA | NA | Frameshift | No |
| OV208PT | ATP1B4 | CCDS14598.1 | g.chrX:119393449C > T | c.745C > T | p.249R > W | Missense | Yes |
| OV208PT | ATP8B2 | CCDS1066.1 | g.chr1 : 152570164C > T | c.320C > T | p.107S > F | Missense | Yes |
| OV206PT | BAIAP2L2 | CCDS43018.1 | g.chr22 : 36823070G > T | c.527 > C > A | p.176A > D | Missense | No |
| OV204PT | BBS7 | CCDS3724.1 | g.chr4 : 122973994C > T | c.1518G > A | p.506M > I | Missense | Yes |
| OV204PT | BRAF | CCDS5863.1 | g.chr7 : 140099605A > T | c.1799T > A | p.600V > E | Missense | Yes |
| OV208PT | C13orf23 | CCDS9368.2 | g.chr13 : 38506336 delA | IVS1-3delT | NA | Splice site | No |
| OV208PT | C14orf106 | CCDS9684.1 | g.chr14 : 44763010G > A | c.2530C > T | p.844Q > X | Nonsense | Yes |
| OV204PT | C1QTNF1 | CCDS11761.1 | g.chr17 : 74555304G > T | c.385G > T | p.129G > W | Missense | Yes |
| OV204PT | CCDC142 | CCDS1945.1 | g.chr2 : 74555389T > C | c.2024A > G | p.675N > S | Missense | Yes |
| OV208PT | CCDC33 | CCDS42058.1 | g.chr15 : 72414457C > T | c.2114 > C > T | p.705S > L | Missense | No |
| OV205PT | CCDC76 | CCDS765.1 | g.chr1 : 100378997C > T | c.503C > T | p.168A > V | Missense | Yes |
| OV209PT | CDC27 | CCDS11509.1 | g.chr17 : 42571114T > A | c.1694 > A > T | p.565N > I | Missense | No |
| OV209PT | CDH2 | CCDS11891.1 | g.chr18 : 23827463G > T | c.1157C > A | p.386T > K | Missense | Yes |
| OV209PT | COL19A1 | CCDS4970.1 | g.chr6 : 70913458C > A | c.1849C > A | p.617P > T | Missense | Yes |
| OV208PT | CYLC2 | CCDS35085.1 | g.chr9 : 104807455G > C | c.721G > C | p.241E > Q | Missense | Yes |
| OV208PT | DDC | CCDS5511.1 | g.chr7 : 50564474G > A | c.496C > T | p.166R > W | Missense | Yes |
| OV203PT | DGKH | CCDS9381.1 | g.chr13 : 41678241G > T | c.2560G > T | p.854A > S | Missense | Yes |
| OV202PT | EMR3 | CCDS12315.1 | g.chr19 : 14591285T > C | IVS15-2A > G | NA | Splice site | Yes |
| OV208PT | EXPH5 | CCDS8341.1 | g.chr11 : 107886124 G > C | c.5320C > G | p.1774L > V | Missense | Yes |
| OV209PT | FAM65C | CCDS13431.2 | g.chr20 : 48646191G > A | c.1795C > T | p.599P > S | Missense | Yes |
| OV208PT | FBN1 | CCDS32232.1 | g.chr15 : 46692561C > T | c.185G > A | p.62R > H | Missense | Yes |
| OV204PT | FSTL5 | CCDS3802.1 | g.chr4 : 162678870G > A | c.1210C > T | p.404R > C | Missense | Yes |
| OV206PT | GNRH2 | CCDS13040.1 | g.chr20 : 2974356- 60dupGCCCC |
c.337-41dupGCCCC | NA | Frameshift | No |
| OV209PT | HEPACAM | CCDS8456.1 | g.chr11 : 124299968C > T | c.293G > A | p.98R > H | Missense | Yes |
| OV205PT | IP6K2 | CCDS2777.1 | g.chr3 : 48701018G > A | c.973C > T | p.325R > C | Missense | Yes |
| OV209PT | KCNJ12 | CCDS11219.1 | g.chr17 : 21260469G > A | c.1222 > G > A | p.408A > T | Missense | No |
| OV208PT | KIFC2 | CCDS6427.1 | g.chr8 : 145663014C > G | c.163C > G | p.55L > V | Missense | Yes |
| OV203PT | KLHL11 | CCDS11411.1 | g.chr17 : 37265006G > T | c.639C > A | p.213H > Q | Missense | Yes |
| OV209PT | KPRP | CCDS30862.1 | g.chr1 : 151000349G > A | c.1661G > A | p.554R > Q | Missense | Yes |
| OV209PT | KRAS | CCDS8703.1 | g.chr12 : 25289551C > T | c.35G > A | p.12G > D | Missense | Yes |
| OV209PT | LAMP2 | CCDS14600.1 | g.chrX:119457081C > T | c.1189G > A | p.397V > I | Missense | Yes |
| OV205PT | LILRA2 | CCDS12900.1 | g.chr19 : 59779118C > T | c.985C > T | p.329Q > X | Nonsense | Yes |
| OV209PT | LRIG1 | CCDS33783.1 | g.chr3 : 66513792G > A | c.2954C > T | p.985A > V | Missense | Yes |
| OV209PT | LUC7L | CCDS32348.1 | g.chr16 : 179998C > T | c.944 > G > A | p.315R > Q | Missense | No |
| OV205PT | MARCO | CCDS2124.1 | g.chr2 : 119456294C > T | c.994C > T | p.332R > X | Nonsense | Yes |
| OV203PT | MCM7 | CCDS5683.1 | g.chr7 : 99533212C > T | c.1078G > A | p.360G > R | Missense | Yes |
| OV208PT | MYH7 | CCDS9601.1 | g.chr14 : 22968919G > T | c.1043C > A | p.348S > Y | Missense | Yes |
| OV202PT | NCK1 | CCDS3092.1 | g.chr3 : 138149854- 6delAAA |
c.1003-5delAAA | NA | In-frame deletion |
Yes |
| OV209PT | NLRP3 | CCDS1632.1 | g.chr1 : 245653904G > A | c.536G > A | p.197S > N | Missense | Yes |
| OV209PT | OR6K2 | CCDS30902.1 | g.chr1 : 156936939A > T | c.128T > A | p.43L > Q | Missense | Yes |
| OV204PT | PBX1 | CCDS1246.1 | g.chr1 : 163055986C > T | c.1051C > T | p.351Q > X | Nonsense | Yes |
| OV209PT | PCDHG | CCDS4260.1 | g.chr5 : 140792593G > A | c.2083G > A | p.695V > I | Missense | Yes |
| OV209PT | PHF20 | CCDS13268.1 | g.chr20 : 33968975G > T | c.1981G > T | p.661E > X | Nonsense | Yes |
| OV208PT | PIK3CA | CCDS43171.1 | g.chr3 : 180404242G > A | c.1030G > A | p.344V > M | Missense | Yes |
| OV205PT | PNMA5 | CCDS14718.1 | g.chrX:151910416C > A | c.383G > T | p.128S > I | Missense | Yes |
| OV205PT | POLQ | CCDS33833.1 | g.chr3 : 122691680A > T | c.2788T > A | p.930S > T | Missense | Yes |
| OV208PT | PRKRA | CCDS2279.1 | g.chr2 : 179005230G > A | IVS7-3 > C > T | NA | Splice site | No |
| OV209PT | PRRX1 | CCDS1290.1 | g.chr1 : 168971937C > G | c.724C > G | p.242P > A | Missense | Yes |
| OV208PT | RBL2 | CCDS10748.1 | g.chr16 : 52058534C > T | c.1927C > T | p.643P > S | Missense | Yes |
| OV208PT | REPS2 | CCDS14180.2 | g.chrX:16980489G > A | c.971G > A | p.324 W > X | Nonsense | Yes |
| OV209PT | RNF214 | CCDS41720.1 | g.chr11 : 116614795G > T | c.376G > T | p.126E > X | Nonsense | Yes |
| OV208PT | S100PBP | CCDS30666.1 | g.chr1 : 33064901C > G | c.614C > G | p.205S > C | Missense | Yes |
| OV208PT | SDSL | CCDS9170.1 | g.chr12 : 112350202A > G | c.32A > G | p.11Q > R | Missense | Yes |
| OV205PT | SLC9A6 | CCDS44003.1 | g.chrX:134908689T > A | c.689 > T > A | p.230M > K | Missense | No |
| OV209PT | SPATA5 | CCDS3730.1 | g.chr4 : 124068326G > T | c.251G > T | p.84R > L | Missense | Yes |
| OV208PT | SPOP | CCDS11551.1 | g.chr17 : 45054368C > T | c.139G > A | p.47E > K | Missense | Yes |
| OV208PT | SRCAP | CCDS10689.2 | g.chr16 : 30638999C > T | c.2833C > T | p.945R > X | Nonsense | Yes |
| OV203PT | SRP72 | CCDS3506.1 | g.chr4 : 57052353G > A | IVS15-1G > A | NA | Splice site | Yes |
| OV203PT | STYK1 | CCDS8629.1 | g.chr12 : 10668616- 18delAAA |
c.827-29delTTT | NA | In-frame deletion |
Yes |
| OV205PT | TCF25 | CCDS10987.1 | g.chr16 : 88478529 dupA | c.393dupA | NA | Frameshift | No |
| OV204PT | TMEM202 | CCDS32287.1 | g.chr15 : 70486577T > C | c.584T > C | p.195L > P | Missense | Yes |
| OV208PT | TNNI3K-FPGT | CCDS663.1 | g.chr1 : 74442707A > T | c.388A > T | p.130I > F | Missense | Yes |
| OV204PT | TPO | CCDS1643.1 | g.chr2 : 1523465C > A | c.2711C > A | p.904T > N | Missense | Yes |
| OV203PT | TRIM31 | CCDS34374.1 | g.chr6 : 30179332G > A | c.1238C > T | p.413T > I | Missense | Yes |
| OV209PT | TSG101 | CCDS7842.1 | g.chr11 : 18480703delA | IVS6-3delT | NA | Splice site | Yes |
| OV204PT | TSPAN11 | CCDS31765.1 | g.chr12 : 31008218C > T | c.275C > T | p.92T > M | Missense | Yes |
| OV209PT | TSPAN11 | CCDS31765.1 | g.chr12 : 31027266G > A | c.616G > A | p.206G > R | Missense | Yes |
| OV204PT | VDR | CCDS8757.1 | g.chr12 : 46545141G > C | c.233 > C > G | p.78A > G | Missense | No |
| OV208PT | WWTR1 | CCDS3144.1 | g.chr3 : 150857512G > T | c.272C > A | p.91P > H | Missense | Yes |
| OV203PT | XIRP2 | CCDS42769.1 | g.chr2 : 167814105G > C | c.7957G > C | p.2653D > H | Missense | Yes |
| OV208PT | ZFYVE16 | CCDS4050.1 | g.chr5 : 79769548G > C | c.1288G > C | p.430E > Q | Missense | Yes |
| OV208PT | ZFYVE16 | CCDS4050.1 | g.chr:579769674G > A | c.1414G > A | p.472D > N | Missense | Yes |
| OV209PT | ZNF572 | CCDS6354.1 | g.chr8 : 126057095A > T | c.32A > T | p.11D > V | Missense | Yes |
*
All coordinates refer to the human reference genome hg18 release (NCBI 36.1, March 2006). NA, not applicable.