Table 1.
Mutations in ARID1A, KRAS, PIK3CA and PPP2R1A in Human Ovarian Clear Cell Carcinomas.
| Sample# | Gene | Transcript Accession | Nucleotide (genomic)* | Nucleotide (cDNA) | Amino acid (protein) | Mutation type |
|---|---|---|---|---|---|---|
| OCC01PT | ARID1A | CCDS285.1 | g.chr1:26972561_26972562insA | c.3854_3855insA | fs | Indel |
| OCC02PT | ARID1A | CCDS285.1 | g.chr1:26896034C>T | c.553C>T | p.Q185X | Nonsense |
| OCC02PT | ARID1A | CCDS285.1 | g.chr1:26978879-26978880dupGT | c.903_904dupGT | fs | Indel |
| OCC03PT | ARID1A | CCDS285.1 | g.chr1:26972009_26972034delTGATGGGGCGCATGTCCTATGAGCCA (hom) | c.3659_3684delTGATGGGGCGCATGTCCTATGAGCCA | fs | Indel |
| OCC07PT | ARID1A | CCDS285.1 | g.chr1:26896066C>A | c.585C>A | p.Y195X | Nonsense |
| OCC08PT | ARID1A | CCDS285.1 | g.chr1:26970389delC | c.3391delC | fs | Indel |
| OCC10PT | ARID1A | CCDS285.1 | g.chr1:26972790_26972792dupGCA (hom) | c.4001_4002dupGCA (hom) | fs | Indel |
| OCC10PT | ARID1A | CCDS285.1 | g.chr1:26979804_26979805delTG (hom) | c.6828_6829delTG(hom) | fs | Indel |
| OCC11PT | ARID1A | CCDS285.1 | g.chr1:26930334_26930335insCCTAC | c.1455_1466insCCTAC | fs | Indel |
| OCC13PT | ARID1A | CCDS285.1 | g.chr1:26974233_26974234insTGGC | c.4926_4927insTGGC | fs | Indel |
| OCC14PT | ARID1A | CCDS285.1 | g.chr1:26972886_26972887_delTT (hom) | c.4011_4012delTT (hom) | fs | Indel |
| OCC15PT | ARID1A | CCDS285.1 | g.chr1:26973940G>A | c.4635G>A | p.W1545X | Nonsense |
| OCC15PT | ARID1A | CCDS285.1 | g.chr1:26978178T>A | c.5202T>A | p.Y1734X | Nonsense |
| OCC16PT | ARID1A | CCDS285.1 | g.chr1:26895967_26895973delCGCCGCC (hom) | c.486_492delCGCCGCC (hom) | fs | Indel |
| OCC18PT | ARID1A | CCDS285.1 | g.chr1:26971925delA | c.3575delA | fs | Indel |
| OCC20PT | ARID1A | CCDS285.1 | g.chr1:26970221delG | c.3223delG | fs | Indel |
| OCC22PT | ARID1A | CCDS285.1 | g.chr1:26979694dupG | c.6718dupG | fs | Indel |
| OCC23PT | ARID1A | CCDS285.1 | g.chr1:26896379_2689637980_insCGTC | c.898_899insCGTC | fs | Indel |
| OCC23PT | ARID1A | CCDS285.1 | g.chr1:26979686_26979687insT | c.6710_6711insT | fs | Indel |
| OCC24PT | ARID1A | CCDS285.1 | g.chr1:26930542C>T | c.1663C>T | p.Q555X | Nonsense |
| OCC27PT | ARID1A | CCDS285.1 | g.chr1:26896263_26896272delCGTCGTCTTC | c.782_791delCGTCGTCTTC | fs | Indel |
| OCC27PT | ARID1A | CCDS285.1 | g.chr1:26971984_26971994delCAGCCCAGTAT | c.3634_3644delCAGCCCAGTAT | fs | Indel |
| OCC30PT | ARID1A | CCDS285.1 | g.chr1:26931823C>T | c.1873C>T | p.Q625X | Nonsense |
| OCC32PT | ARID1A | CCDS285.1 | g.chr1:26960135C>T | c.2122C>T | p.Q708X | Nonsense |
| OCC34PT | ARID1A | CCDS285.1 | g.chr1:26931754G>T | c.1804G>T | p.E602X | Nonsense |
| OCC34PT | ARID1A | CCDS285.1 | g.chr1:26979678delT | c.6702delT | fs | Indel |
| OCC36PT | ARID1A | CCDS285.1 | g.chr1:26928932T>G | c.1341T>G | p.Y447X | Nonsense |
| OCC36PT | ARID1A | CCDS285.1 | g.chr1:26971613delC | c.3442delC | fs | Indel |
| OCC39PT | ARID1A | CCDS285.1 | g.chr1:26896364dupC | c.883dupC | fs | Indel |
| OCC39PT | ARID1A | CCDS285.1 | g.chr1:26965434delC | c.2868delC | fs | Indel |
| OCC41PT | ARID1A | CCDS285.1 | g.chr1:26931831delT | c.1881delT | fs | Indel |
| OCC42PT | ARID1A | CCDS285.1 | g.chr1:26960479_26960488delCGGCCACCCA | c.2179_2188delCGGCCACCCA | fs | Indel |
| OCC04PT | KRAS | CCDS8703.1 | g.chr12:25289551C>T | c.35G>A | p.G12D | Missense |
| OCC05PT | KRAS | CCDS8703.1 | g.chr12:25289551C>G | c.35G>C | p.G12A | Missense |
| OCC01PT | PIK3CA | CCDS43171.1 | g.chr3:180418788C>A | c.1636C>A | p.Q546K | Missense |
| OCC02PT | PIK3CA | CCDS43171.1 | g.chr3:180418776G>A | c.1624G>A | p.E542K | Missense |
| OCC06PT | PIK3CA | CCDS43171.1 | g.chr3:180418785G>A | c.1633G>A | p.E545K | Missense |
| OCC08PT | PIK3CA | CCDS43171.1 | g.chr3:180418785G>A | c.1633G>A | p.E545K | Missense |
| OCC09PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>T | c.3140A>T | p.H1047L | Missense |
| OCC10PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC11PT | PIK3CA | CCDS43171.1 | g.chr3:180418777A>T | c.1625A>T | p.E542V | Missense |
| OCC13PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC15PT | PIK3CA | CCDS43171.1 | g.chr3:180410152C>G | c.1221C>G | p.C407W | Missense |
| OCC20PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC22PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC23PT | PIK3CA | CCDS43171.1 | g.chr3:180399648_180399649insCCTCAA | c.341_342insCCTCAA | fs | Indel |
| OCC27PT | PIK3CA | CCDS43171.1 | g.chr3:180399638A>G | c.331A>G | p.K111E | Missense |
| OCC30PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC35PT | PIK3CA | CCDS43171.1 | g.chr3:180418776G>A | c.1624G>A | p.E542K | Missense |
| OCC36PT | PIK3CA | CCDS43171.1 | g.chr3:180418785G>A | c.1633G>A | p.E545K | Missense |
| OCC42PT | PIK3CA | CCDS43171.1 | g.chr3:180434779A>G | c.3140A>G | p.H1047R | Missense |
| OCC05PT | PPP2R1A | CCDS12849.1 | g.chr19:57407794C>G | c.547C>G | p.R183G | Missense |
| OCC07PT | PPP2R1A | CCDS12849.1 | g.chr19:57407794C>T | c.547C>T | p.R183W | Missense |
| OCC36PT | PPP2R1A | CCDS12849.1 | g.chr19:57407791C>T | c.544C>T | p.R182W | Missense |
*
Coordinates refer to the human reference genome hg18 release (NCBI 36.1, March 2006).
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Samples OCC01 to OCC08 were used for the initial (discovery) screen for mutations