Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

A cohort of 69 patients diagnosed with ovarian clear cell cancer and treated surgically from 2008 to 2016 was recruited. Ovarian tumor tissue samples and matched solid normal tissue samples were obtained. This cohort was included in the WES cohort ( n  = 42) and the targeted sequencing cohort ( n  = 69 including the WES cohort). The detailed clinical pathological characteristics of the patients in the cohorts, including age, tumor stage, chemotherapy, the presence of endometriosis and survival, are presented in Table 1 . The median age at diagnosis was 52 years, but a notable percentage of the patients (10%) were younger than 40 years at diagnosis. The tumor was stage I in 45 patients, stage II in 12 subjects and stage III/IV in 12 individuals. To detect somatic mutations in tumor samples, whole-exome sequencing was performed on 84 samples (42 ovarian tissues, including both cancer and adjacent normal tissues). For the tumor and matched normal DNA samples, each targeted base was sequenced by a mean of 180 independent reads. A total of 5868 somatic exonic mutations were identified in all tumor samples, including nonsynonymous variants, in_frameshift variants, frameshift variants, nonsense variants and splice site variants, with a median of 153 alterations per tumor (range, 44–794). The number of somatic mutations was higher in patients with stage III/IV disease than in patients with stage I/II disease ( P  = 0.039; Wilcoxon test) (1). However, no correlation was observed between the number of somatic mutations and patient age (group 1 ≤52 years; group 2 >52 years; P  = 0.31) or the presence of endometriosis ( P  = 0.50) ( Fig. S1 ). The previously reported hotspot genes with somatic mutations in OCCC included ARID1A , PIK3CA , KRAS , PPP2R1A , PTEN, MLL3 , ARID1B and PIK3R1 ( Fig. S2 ). In total, 63 mutations were discovered across these 8 genes in 42 OCCCs ( Table S1 ). Of these, ARID1A and PIK3CA were the two most frequently mutated genes in all patients. ARID1A accounted for 34 mutations in 27 patients, which was consistent with a previous report, but these mutations were scattered along the entire length of the genes. PIK3CA accounted for 14 mutations in 12 patients, and 4 of these patients had PIK3CA hotspot mutations (c.1624G > A [p. Glu542Lys] and c.1633G > A [p. Glu545Lys]). Genes predicted by more than one method may be more likely to be drivers. By applying six independent mutation prediction algorithms, eDriver ( Table S2 ), OncodriveFML ( Table S3 ), ActiveDriver ( Table S4 ), MutSigCV ( Table S5 ), Genome MuSic ( Table S6 ) and OncodriveCLUST ( Table S7 ), we computed the significance levels of the frequently mutated genes, accounting for the gene size and the background mutation rate. Fig. 1 a shows the most significantly mutated genes identified by more than two cancer driver detection methods in our panel of 43 cases, with their mutation frequencies derived from whole-exome sequencing; these genes included ARID1A , MAGEE1 , PIK3CA , MUC4 , ARID3A , FLG2 , TCHH, GRM3 , MUC17 , ZNF208 and GAGE12J . In addition to ARID1A and PIK3CA , other genes were newly identified as novel SMGs in our study. The frequencies of significant somatic mutations in the oncogenes MUC4 and ARID3A were 28.6% and 16.7%, respectively. MAGEE1 , FLG2 , TCHH , GRM3 , MUC17 , ZNF208 , and GAGE12J were mutated in 19.0%, 26.2%, 23.8%, 4.8%, 23.8%, 9.5% and 9.5% of samples, respectively ( Fig. 1 b). Fig. 1 Mutations identified by whole-exome sequencing in OCCC patients. (a) Eleven SMGs identified in 42 OCCC samples. Venn diagram of the overlap of the significantly mutated genes as assessed by eDriver, OncodriveFML, ActiveDriver, MutSigCV, Genome MuSic and OncodriveCLUST. (b) Mutation oncoprint of the 11 SMGs identified by at least two of the three methods. (c) Distribution of specific nucleotide changes among somatic variations by whole exome sequencing in cancer tissues compared to adjacent tissues. (d) The bars show the percentage of somatic single nucleotide variations identified in each sample. (e) Two mutational signatures were observed in the genomes of OCCC samples: a defective DNA mismatch repair signature (signature 6) and an age-associated signature (signature 1). These data were adapted from COSMIC database ( http://cancer.sanger.ac.uk/cosmic/signatures ). Mutations identified by whole-exome sequencing in OCCC patients. (a) Eleven SMGs identified in 42 OCCC samples. Venn diagram of the overlap of the significantly mutated genes as assessed by eDriver, OncodriveFML, ActiveDriver, MutSigCV, Genome MuSic and OncodriveCLUST. (b) Mutation oncoprint of the 11 SMGs identified by at least two of the three methods. (c) Distribution of specific nucleotide changes among somatic variations by whole exome sequencing in cancer tissues compared to adjacent tissues. (d) The bars show the percentage of somatic single nucleotide variations identified in each sample. (e) Two mutational signatures were observed in the genomes of OCCC samples: a defective DNA mismatch repair signature (signature 6) and an age-associated signature (signature 1). These data were adapted from COSMIC database ( http://cancer.sanger.ac.uk/cosmic/signatures ). The mutation spectrum revealed C: G > T: A transitions (69.41%), as the most abundant alteration, and other transversions, including C: G > G: C (6.91%), T: A > C: G (7.83%), C: G > A: T (1.02%), T: A > G: C (2.25%) and T: A > A: T (3.37%) ( Fig. 1 c and d). Using known mutational signatures reported in the COSMIC database, the most frequent mutation signature was signature 6 (likely with defective DNA mismatch repair), which is most frequently found in colorectal and uterine cancers. The second most common signature observed was signature 1, a pattern associated with spontaneous deamination of 5-methylcytosine that accounts for a significant percentage of the critical somatic driver mutations observed in most cancers, including OVs ( Fig. 1 e). To further validate the frequently mutated genes found in the WES cohort, we performed targeted sequencing of all 69 tumor samples. The targeted gene panel included over 56 previously identified genes that are prone to mutation and involved in OCCC ( Table S8 ). This panel is composed of genes from four categories: MutSigCV-positive cancer driver genes (6 genes), genes with a high variant frequency (19 genes), previously reported genes (9 genes) and other candidate genes (22 genes). We analyzed tumor DNA from a total of 138 OCCC samples (ovarian tissues including both cancer and adjacent normal tissues). After quality control for library preparation, 124 tumors (62 tumor samples) were suitable for analysis. On average, 96% of the reads mapped uniquely to the targeted sequences, and we obtained an average read depth of 800 reads per base in the targeted region. After filtering out changes in intronic regions and polymorphisms (present in dbSNP134), we identified a total of 1816 variants in all sequenced exons of the 62 OCCC patients. After discarding alterations in noncoding RNAs or the 5′ or 3′ untranslated regions, and synonymous mutations, only 1096 single nucleotide variants and indels were identified that resulted in missense mutations, frameshift mutations, inframe mutations or nonsense mutations, with an average of 17.62 mutations per case ( Table 2 ). AHNAK2 was the most frequently mutated gene (60.3%), followed by OBSCN (55.5%), ARID1A (54.0%), and AHNAK (49.2%), MUC19 (46.0%), DSPP (42.9%), PIK3CA (41.3%), FLG (41.3%) and MUC17 (41.3%) ( Fig. S2 ). In ARID1A , we identified 45 heterozygous variants (21 frameshift, 11 nonsense, 7 missense changes, 3 in frame variants and 3 splice site variants) spread across the coding exons of the gene in 33 patients. Heterozygous mutations were also identified in PIK3CA, and these mutations mostly clustered in exons 10 and 21. The majority of the PIK3CA mutations were missense mutations ( n  = 26). In MAGEE1 , we identified 13 heterozygous variants including 7 inFrameDel mutations, 4 missense mutations, 1 frameshiftIns mutation and 1 inFrameIn mutation ( Fig. S3 ). Table 2 Gene mutations identified by targeted sequencing in 62 patients with OCCC. Hugo_Symbol chromosome Start_Position End_Position Strand Variant_Classification Tumor_Seq_Allele1 Tumor_Seq_Allele2 Tumor_Samle_Barcode protein_change ARID1A 1 27087346 27087346 + Splice_Site G T OCCC_22 OBSCN 1 228528833 228528833 + Missense_Mutation G A OCCC_22 p.R5912H MSH3 5 79950724 79950724 + Missense_Mutation G C OCCC_22 p.A60P MUC17 7 100683482 100683482 + Missense_Mutation C T OCCC_22 p.P2929S AHNAK 11 62296059 62296059 + Missense_Mutation C A OCCC_22 p.V1944L AHNAK2 14 105413318 105413318 + Missense_Mutation C T OCCC_22 p.G2824R AHNAK2 14 105413471 105413471 + Missense_Mutation T C OCCC_22 p.K2773E TCHH 1 152083777 152083777 + Missense_Mutation T G OCCC_37 p.Q639P FLG 1 152277704 152277704 + Missense_Mutation C G OCCC_37 p.D3220H FLG 1 152281635 152281635 + Missense_Mutation C A OCCC_37 p.R1909S OBSCN 1 228462377 228462377 + Missense_Mutation G A OCCC_37 p.V1930M OBSCN 1 228468087 228468087 + Missense_Mutation C T OCCC_37 p.A2624V DSPP 4 88537412 88537412 + Missense_Mutation G A OCCC_37 p.D1200N PTPRN2 7 157959931 157959931 + Missense_Mutation G A OCCC_37 p.A201V PLEC 8 144998243 144998243 + Missense_Mutation G A OCCC_37 p.R2089C PLEC 8 145024703 145024703 + Missense_Mutation G A OCCC_37 p.R58W AHNAK 11 62293968 62293968 + Missense_Mutation C T OCCC_37 p.V2641M MUC19 12 40873781 40873781 + Missense_Mutation T C OCCC_37 p.S1776P MUC19 12 40873989 40873989 + Missense_Mutation C T OCCC_37 p.S1845L AHNAK2 14 105407327 105407327 + Missense_Mutation G A OCCC_37 p.P4821S AHNAK2 14 105407525 105407525 + Missense_Mutation G A OCCC_37 p.P4755S AHNAK2 14 105413516 105413516 + Missense_Mutation C G OCCC_37 p.V2758L AHNAK2 14 105413517 105413517 + Missense_Mutation G C OCCC_37 p.N2757K AHNAK2 14 105413791 105413791 + Missense_Mutation G A OCCC_37 p.S2666F AHNAK2 14 105419549 105419549 + Missense_Mutation G T OCCC_37 p.P747T AHNAK2 14 105419610 105419610 + Missense_Mutation C G OCCC_37 p.Q726H CASKIN1 16 2231127 2231127 + Missense_Mutation C T OCCC_37 p.G748S ERBB2 17 37863287 37863287 + Missense_Mutation G A OCCC_37 p.E40K SPTBN4 19 41062992 41062992 + Missense_Mutation G A OCCC_37 p.A1785T PPP2R1A 19 52715982 52715982 + Missense_Mutation C T OCCC_37 p.R183W LAMA5 20 60909579 60909579 + Splice_Site C A OCCC_37 p.E861* HRNR 1 152191230 152191230 + Missense_Mutation G T OCCC_50 p.Q959K OBSCN 1 228474615 228474615 + Missense_Mutation G A OCCC_50 p.R3140Q PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_50 p.H1047R DSPP 4 88536737 88536737 + Missense_Mutation G A OCCC_50 p.D975N PLEC 8 145009181 145009181 + Missense_Mutation T A OCCC_50 p.N412Y EVPL 17 74010545 74010545 + Missense_Mutation C A OCCC_50 p.G779C HELZ2 20 62194375 62194375 + Missense_Mutation G A OCCC_50 p.R1934W ARID1A 1 27105565 27105565 + Nonsense_Mutation G T OCCC_04 p.E1726* ARID1A 1 27106159 27106159 + Missense_Mutation G A OCCC_04 p.E1924K DST 6 56357781 56357781 + Missense_Mutation C T OCCC_04 p.R6514Q AHNAK2 14 105413284 105413284 + Missense_Mutation G A OCCC_04 p.S2835L SPTA1 1 158592867 158592867 + Missense_Mutation C T OCCC_47 p.R2009H SPTA1 1 158617396 158617396 + Missense_Mutation G A OCCC_47 p.R1277C OBSCN 1 228462332 228462332 + Missense_Mutation G A OCCC_47 p.E1915K OBSCN 1 228464316 228464316 + Missense_Mutation C G OCCC_47 p.P2129R OBSCN 1 228468069 228468069 + Missense_Mutation G A OCCC_47 p.S2618N OBSCN 1 228475581 228475581 + Missense_Mutation G A OCCC_47 p.R3244Q OBSCN 1 228503679 228503679 + Missense_Mutation A G OCCC_47 p.T4382A OBSCN 1 228506756 228506756 + Missense_Mutation C T OCCC_47 p.S4768L OBSCN 1 228509733 228509733 + Missense_Mutation C T OCCC_47 p.A5064V OBSCN 1 228555619 228555619 + Missense_Mutation A T OCCC_47 p.Y6554F OBSCN 1 228559933 228559933 + Missense_Mutation A T OCCC_47 p.T7152S OBSCN 1 228562312 228562312 + Missense_Mutation C T OCCC_47 p.R7508C OBSCN 1 228564758 228564758 + Missense_Mutation G A OCCC_47 p.R7682H OBSCN 1 228566387 228566387 + Missense_Mutation G A OCCC_47 p.R7933Q PIK3CA 3 178916623 178916623 + Nonsense_Mutation C T OCCC_47 p.R4* MUC4 3 195511070 195511070 + Missense_Mutation C G OCCC_47 p.D2461H MUC4 3 195511208 195511208 + Missense_Mutation T G OCCC_47 p.T2415P MUC4 3 195513530 195513530 + Missense_Mutation A C OCCC_47 p.L1641V SHROOM3 4 77662408 77662408 + Missense_Mutation G A OCCC_47 p.E1028K DST 6 56357740 56357740 + Missense_Mutation C T OCCC_47 p.E6528K MUC17 7 100683993 100683993 + Missense_Mutation C A OCCC_47 p.T3099N AHNAK 11 62299325 62299325 + Missense_Mutation T G OCCC_47 p.K855T SPTBN2 11 66457571 66457571 + Missense_Mutation G A OCCC_47 p.R1917W SPTBN2 11 66478182 66478182 + Missense_Mutation G A OCCC_47 p.S315L SPTBN2 11 66478411 66478411 + Missense_Mutation C T OCCC_47 p.V288M KRAS 12 25398284 25398284 + Missense_Mutation C T OCCC_47 p.G12D MUC19 12 40838017 40838017 + Missense_Mutation G A OCCC_47 p.A867T SPTB 14 65260543 65260543 + Missense_Mutation C A OCCC_47 p.S613I AHNAK2 14 105413318 105413318 + Missense_Mutation C T OCCC_47 p.G2824R AHNAK2 14 105415607 105415607 + Missense_Mutation C T OCCC_47 p.V2061M AHNAK2 14 105417358 105417358 + Missense_Mutation T C OCCC_47 p.E1477G CASKIN1 16 2231918 2231918 + Missense_Mutation C T OCCC_47 p.V548M XPO6 16 28167402 28167402 + Missense_Mutation C T OCCC_47 p.D364N SPTBN4 19 41060134 41060134 + Missense_Mutation A C OCCC_47 p.S1586R SPTBN4 19 41062987 41062987 + Missense_Mutation G A OCCC_47 p.R1783Q VASP 19 46021266 46021266 + Missense_Mutation G A OCCC_47 p.R86H PPP2R1A 19 52716323 52716323 + Missense_Mutation C A OCCC_47 p.S256Y LAMA5 20 60889985 60889985 + Missense_Mutation G A OCCC_47 p.T2689M LAMA5 20 60899525 60899525 + Missense_Mutation C T OCCC_47 p.R1872H HELZ2 20 62190630 62190630 + Missense_Mutation C T OCCC_47 p.R2640H MAPK1 22 22123579 22123579 + Missense_Mutation T C OCCC_47 p.M333V MAPK1 22 22153396 22153396 + Missense_Mutation G A OCCC_47 p.R172C ARID1A 1 27057788 27057788 + Missense_Mutation C T OCCC_25 p.S499L ARID1A 1 27106648 27106648 + Missense_Mutation G A OCCC_25 p.G2087R RPTN 1 152128065 152128065 + Missense_Mutation C T OCCC_25 p.G504R HRNR 1 152191050 152191050 + Missense_Mutation C T OCCC_25 p.G1019R FLG 1 152281145 152281145 + Missense_Mutation T G OCCC_25 p.K2073Q FLG 1 152282178 152282178 + Missense_Mutation C G OCCC_25 p.E1728D FLG 1 152283430 152283430 + Missense_Mutation A G OCCC_25 p.F1311S FLG2 1 152324114 152324114 + Missense_Mutation C T OCCC_25 p.A2050T OBSCN 1 228464337 228464337 + Missense_Mutation C T OCCC_25 p.S2136L LRP1B 2 141625794 141625794 + Missense_Mutation C T OCCC_25 p.R1403H MUC4 3 195508586 195508586 + Missense_Mutation A C OCCC_25 p.S3289A DSP 6 7584072 7584072 + Missense_Mutation G A OCCC_25 p.E2193K DST 6 56480547 56480547 + Missense_Mutation C T OCCC_25 p.R2573Q MUC17 7 100679633 100679633 + Missense_Mutation C T OCCC_25 p.P1646S MUC17 7 100682351 100682351 + Missense_Mutation A G OCCC_25 p.I2552V AHNAK 11 62295870 62295870 + Missense_Mutation T C OCCC_25 p.M2007V AHNAK 11 62296335 62296335 + Missense_Mutation C T OCCC_25 p.A1852T SPTB 14 65251050 65251050 + Missense_Mutation C T OCCC_25 p.R1306Q SPTB 14 65260495 65260495 + Missense_Mutation C T OCCC_25 p.R629Q SPTB 14 65263370 65263370 + Missense_Mutation G A OCCC_25 p.R416W AHNAK2 14 105405284 105405284 + Missense_Mutation G A OCCC_25 p.R5502W AHNAK2 14 105408638 105408638 + Missense_Mutation G C OCCC_25 p.L4384V AHNAK2 14 105410804 105410804 + Missense_Mutation C G OCCC_25 p.D3662H CASKIN1 16 2231447 2231447 + Missense_Mutation G A OCCC_25 p.P641L CASKIN1 16 2239089 2239089 + Missense_Mutation C T OCCC_25 p.D186N EVPL 17 74018494 74018494 + Splice_Site C T OCCC_25 p.P202P PPP2R1A 19 52715982 52715982 + Missense_Mutation C T OCCC_25 p.R183W ARID1A 1 27099947 27099947 + Nonsense_Mutation C T OCCC_01 p.R1276* HRNR 1 152191019 152191019 + Missense_Mutation G T OCCC_01 p.S1029Y HRNR 1 152191565 152191565 + Missense_Mutation G A OCCC_01 p.T847M SPTA1 1 158581062 158581062 + Missense_Mutation C A OCCC_01 p.G2418C OBSCN 1 228520965 228520965 + Missense_Mutation T A OCCC_01 p.L5266Q MUC4 3 195515435 195515435 + Missense_Mutation C T OCCC_01 p.A1006T SHROOM3 4 77631404 77631404 + Missense_Mutation C T OCCC_01 p.A140V SHROOM3 4 77676219 77676219 + Missense_Mutation C A OCCC_01 p.P1528Q SHROOM3 4 77700047 77700047 + Missense_Mutation G A OCCC_01 p.R1903Q ANK3 10 61965552 61965552 + Missense_Mutation C T OCCC_01 p.E431K AHNAK 11 62292816 62292816 + Missense_Mutation C T OCCC_01 p.V3025M AHNAK2 14 105407965 105407965 + Missense_Mutation G A OCCC_01 p.A4608V CASKIN1 16 2237236 2237236 + Missense_Mutation T A OCCC_01 p.T256S EVPL 17 74005072 74005072 + Missense_Mutation A C OCCC_01 p.L1405R EVPL 17 74005073 74005073 + Missense_Mutation G T OCCC_01 p.L1405I EYA2 20 45801465 45801465 + Missense_Mutation G A OCCC_01 p.R383H ARID1A 1 27056349 27056349 + Nonsense_Mutation C T OCCC_32 p.Q449* PIK3CA 3 178936091 178936091 + Missense_Mutation G A OCCC_32 p.E545K AHNAK2 14 105415160 105415160 + Missense_Mutation C G OCCC_32 p.V2210L KRT10 17 38978372 38978372 + Missense_Mutation G A OCCC_32 p.R156C AKT2 19 40745962 40745962 + Missense_Mutation G A OCCC_32 p.P210L ARID1A 1 27106558 27106558 + Missense_Mutation C T OCCC_34 p.R2057W MUC17 7 100680354 100680354 + Missense_Mutation C G OCCC_34 p.T1886S TCHH 1 152081230 152081230 + Missense_Mutation A C OCCC_35 p.L1488R FLG 1 152280731 152280731 + Missense_Mutation G C OCCC_35 p.H2211D PIK3CA 3 178936082 178936082 + Missense_Mutation G A OCCC_35 p.E542K MUC4 3 195489015 195489015 + Missense_Mutation G A OCCC_35 p.L583F DST 6 56417211 56417211 + Missense_Mutation A T OCCC_35 p.V5249D SPTB 14 65289745 65289745 + Missense_Mutation C A OCCC_35 p.W23L DST 6 56505405 56505405 + Splice_Site T - OCCC_35 HRNR 1 152188862 152188862 + Missense_Mutation G A OCCC_61 p.S1748L FLG 1 152276886 152276886 + Missense_Mutation G C OCCC_61 p.D3492E FLG 1 152279527 152279527 + Missense_Mutation T C OCCC_61 p.D2612G FLG 1 152280002 152280002 + Missense_Mutation T C OCCC_61 p.T2454A FLG2 1 152325817 152325817 + Missense_Mutation T C OCCC_61 p.H1482R FLG2 1 152325818 152325818 + Missense_Mutation G C OCCC_61 p.H1482D FLG2 1 152325820 152325820 + Missense_Mutation T G OCCC_61 p.Y1481S MUC4 3 195510896 195510896 + Missense_Mutation G A OCCC_61 p.P2519S MUC17 7 100680017 100680017 + Missense_Mutation A G OCCC_61 p.I1774V MUC17 7 100682427 100682427 + Missense_Mutation G C OCCC_61 p.R2577T MUC17 7 100682967 100682967 + Missense_Mutation T C OCCC_61 p.L2757P PLEC 8 145003304 145003304 + Missense_Mutation T C OCCC_61 p.Q1213R AHNAK2 14 105407327 105407327 + Missense_Mutation G A OCCC_61 p.P4821S AHNAK2 14 105413791 105413791 + Missense_Mutation G A OCCC_61 p.S2666F AHNAK2 14 105414923 105414923 + Missense_Mutation T C OCCC_61 p.K2289E PPP2R1A 19 52722956 52722956 + Missense_Mutation C T OCCC_61 p.R381W LAMA5 20 60909671 60909671 + Missense_Mutation C T OCCC_61 p.R830Q DST 6 56515830 56515831 + Splice_Site TC - OCCC_61 p.G232fs FLG 1 152276490 152276490 + Missense_Mutation C G OCCC_03 p.E3624D FLG 1 152282852 152282852 + Missense_Mutation A G OCCC_03 p.Y1504H FLG 1 152283256 152283256 + Missense_Mutation C G OCCC_03 p.R1369T ZNF717 3 75788028 75788028 + Missense_Mutation G A OCCC_03 p.S199L MUC17 7 100678724 100678724 + Missense_Mutation C A OCCC_03 p.P1343T MUC17 7 100682922 100682922 + Missense_Mutation G C OCCC_03 p.R2742P KRAS 12 25398284 25398284 + Missense_Mutation C G OCCC_03 p.G12A MUC19 12 40820396 40820396 + Missense_Mutation G A OCCC_03 p.R125Q AHNAK2 14 105410804 105410804 + Missense_Mutation C G OCCC_03 p.D3662H ARID1A 1 27106915 27106915 + Nonsense_Mutation C T OCCC_30 p.Q2176* PIK3CA 3 178952077 178952077 + Missense_Mutation T G OCCC_30 p.N1044K FLG 1 152277137 152277137 + Missense_Mutation G C OCCC_69 p.R3409G FLG 1 152281635 152281635 + Missense_Mutation C A OCCC_69 p.R1909S CELSR3 3 48689423 48689423 + Missense_Mutation C A OCCC_69 p.R1937L MUC4 3 195513010 195513010 + Missense_Mutation G A OCCC_69 p.P1814L MUC17 7 100679169 100679169 + Missense_Mutation C A OCCC_69 p.A1491E MUC17 7 100679388 100679388 + Missense_Mutation A C OCCC_69 p.Q1564P MUC17 7 100682261 100682261 + Missense_Mutation G C OCCC_69 p.V2522L PLEC 8 144995266 144995266 + Missense_Mutation G T OCCC_69 p.A3045D PLEC 8 144998339 144998339 + Missense_Mutation G A OCCC_69 p.R2057W AHNAK 11 62295071 62295071 + Missense_Mutation T A OCCC_69 p.D2273V SPTBN4 19 40993723 40993723 + Missense_Mutation C T OCCC_69 p.R97W UNC13B 9 35397632 35397632 + Splice_Site - CCATCGGGAAGGTGCTGATGATGTCTGCATACTGCATCAGCACCTT OCCC_69 p.T1144fs ARID1A 1 27106559 27106559 + Missense_Mutation G A OCCC_63 p.R2057Q OBSCN 1 228456294 228456294 + Missense_Mutation C T OCCC_63 p.A1642V SHROOM3 4 77662468 77662468 + Missense_Mutation C T OCCC_63 p.R1048C DST 6 56485366 56485366 + Nonsense_Mutation G A OCCC_63 p.R1156* AHNAK2 14 105412913 105412913 + Missense_Mutation G A OCCC_63 p.R2959W SPTBN4 19 41019388 41019388 + Missense_Mutation G A OCCC_63 p.G898S MAPK1 22 22153395 22153395 + Missense_Mutation C T OCCC_63 p.R172H KRT5 12 52913524 52913524 + Splice_Site A - OCCC_63 HELZ2 20 62197545 62197545 + Missense_Mutation G T OCCC_67 p.T877N MAPK8IP2 22 51042980 51042980 + Missense_Mutation C T OCCC_67 p.P152L OBSCN 1 228412271 228412271 + Missense_Mutation C T OCCC_41 p.T922M SHROOM3 4 77678005 77678005 + Nonsense_Mutation C T OCCC_41 p.R1705* DST 6 56417706 56417706 + Missense_Mutation T C OCCC_41 p.Q5084R PLEC 8 144992259 144992259 + Missense_Mutation C A OCCC_41 p.Q4047H PLEC 8 145003701 145003701 + Missense_Mutation C T OCCC_41 p.E1125K AHNAK 11 62285364 62285364 + Missense_Mutation C T OCCC_41 p.V5509M KRT5 12 52911474 52911474 + Missense_Mutation C T OCCC_41 p.R331H AHNAK2 14 105412598 105412598 + Missense_Mutation A C OCCC_41 p.L3064V AHNAK2 14 105412633 105412633 + Missense_Mutation G A OCCC_41 p.P3052L MAGEE1 X 75650211 75650211 + Missense_Mutation G A OCCC_41 p.V630M ARID1A 1 27100961 27100961 + Nonsense_Mutation C T OCCC_17 p.Q1415* FLG 1 152280568 152280568 + Missense_Mutation C A OCCC_17 p.R2265I CTNNB1 3 41275648 41275648 + Nonsense_Mutation C T OCCC_17 p.R515* ZNF717 3 75788088 75788088 + Missense_Mutation C T OCCC_17 p.R179K ZNF717 3 75790800 75790800 + Missense_Mutation C T OCCC_17 p.D49N PIK3CA 3 178936095 178936095 + Missense_Mutation A T OCCC_17 p.Q546L MUC4 3 195508955 195508955 + Missense_Mutation C T OCCC_17 p.A3166T SHROOM3 4 77675528 77675528 + Missense_Mutation C T OCCC_17 p.R1298C SHROOM3 4 77677730 77677730 + Missense_Mutation C T OCCC_17 p.T1613I KRT5 12 52912805 52912805 + Missense_Mutation C T OCCC_17 p.S232N AHNAK2 14 105408107 105408107 + Missense_Mutation G T OCCC_17 p.L4561I AHNAK2 14 105412871 105412871 + Missense_Mutation C T OCCC_17 p.A2973T ARID1A 1 27023818 27023818 + Nonsense_Mutation C G OCCC_18 p.Y308* HRNR 1 152186877 152186877 + Missense_Mutation C G OCCC_18 p.G2410R FLG 1 152281113 152281113 + Missense_Mutation G C OCCC_18 p.S2083R FLG 1 152283589 152283589 + Nonsense_Mutation G T OCCC_18 p.S1258* FLG 1 152283590 152283590 + Missense_Mutation A C OCCC_18 p.S1258A FLG 1 152284318 152284318 + Missense_Mutation C T OCCC_18 p.G1015D FLG 1 152284319 152284319 + Missense_Mutation C G OCCC_18 p.G1015R FLG2 1 152328326 152328326 + Missense_Mutation C T OCCC_18 p.G646R ZNF717 3 75788260 75788260 + Missense_Mutation C A OCCC_18 p.G122W MUC17 7 100677793 100677793 + Missense_Mutation G A OCCC_18 p.M1032I MUC17 7 100680228 100680228 + Missense_Mutation C A OCCC_18 p.A1844E MUC17 7 100682045 100682045 + Missense_Mutation C A OCCC_18 p.P2450T MUC17 7 100682552 100682552 + Missense_Mutation A G OCCC_18 p.K2619E MUC17 7 100682556 100682556 + Missense_Mutation A G OCCC_18 p.D2620G UNC13B 9 35398227 35398227 + Missense_Mutation A T OCCC_18 p.N1176I AHNAK 11 62298074 62298074 + Missense_Mutation C G OCCC_18 p.R1272P AHNAK2 14 105413471 105413471 + Missense_Mutation T C OCCC_18 p.K2773E SPTB 14 65258436 65258452 + Splice_Site CCTGGTGTTCAGATGGT - OCCC_18 p.DHLNTR930fs FLG 1 152276045 152276045 + Missense_Mutation A G OCCC_48 p.Y3773H FLG 1 152284263 152284263 + Missense_Mutation G C OCCC_48 p.H1033Q FLG 1 152284673 152284673 + Missense_Mutation G A OCCC_48 p.R897C FLG 1 152284791 152284791 + Missense_Mutation G T OCCC_48 p.H857Q FLG2 1 152329942 152329942 + Missense_Mutation C T OCCC_48 p.R107Q OBSCN 1 228476577 228476577 + Missense_Mutation C G OCCC_48 p.L3443V ZNF717 3 75786921 75786921 + Missense_Mutation G A OCCC_48 p.P568L MUC4 3 195477841 195477841 + Missense_Mutation C T OCCC_48 p.V1028I MUC4 3 195513605 195513605 + Missense_Mutation G A OCCC_48 p.P1616S MUC17 7 100681211 100681211 + Missense_Mutation G C OCCC_48 p.V2172L MUC17 7 100681533 100681533 + Missense_Mutation C A OCCC_48 p.T2279N MUC17 7 100681985 100681985 + Missense_Mutation A T OCCC_48 p.T2430S PLEC 8 144991243 144991243 + Missense_Mutation G A OCCC_48 p.S4386L PLEC 8 144998614 144998614 + Missense_Mutation C T OCCC_48 p.R1965Q ANK3 10 61829483 61829483 + Missense_Mutation C T OCCC_48 p.R3719H ANK3 10 61831651 61831651 + Missense_Mutation C G OCCC_48 p.Q2996H AHNAK 11 62295656 62295656 + Missense_Mutation A T OCCC_48 p.V2078D MUC19 12 40878695 40878695 + Missense_Mutation A G OCCC_48 p.I3414V MUC19 12 40878697 40878697 + Missense_Mutation A G OCCC_48 p.I3414M MUC19 12 40924074 40924074 + Splice_Site G T OCCC_48 KRT5 12 52908794 52908794 + Missense_Mutation C T OCCC_48 p.G569R AHNAK2 14 105409546 105409546 + Missense_Mutation T G OCCC_48 p.K4081T AHNAK2 14 105413266 105413266 + Missense_Mutation A G OCCC_48 p.L2841P AHNAK2 14 105416046 105416046 + Missense_Mutation G C OCCC_48 p.F1914L AHNAK2 14 105419446 105419446 + Missense_Mutation T G OCCC_48 p.K781T CASKIN1 16 2236759 2236759 + Missense_Mutation G A OCCC_48 p.R333W CDC27 17 45219364 45219364 + Missense_Mutation A T OCCC_48 p.M469K ARID1A 1 27106142 27106142 + Missense_Mutation G A OCCC_66 p.R1918Q HRNR 1 152191206 152191206 + Missense_Mutation A G OCCC_66 p.S967P OBSCN 1 228432236 228432236 + Missense_Mutation G A OCCC_66 p.G1149R PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_66 p.H1047R MUC4 3 195506411 195506411 + Missense_Mutation C T OCCC_66 p.A4014T MUC4 3 195508937 195508937 + Missense_Mutation T A OCCC_66 p.T3172S SHROOM3 4 77661446 77661446 + Missense_Mutation A G OCCC_66 p.K707R MSH3 5 80088643 80088643 + Missense_Mutation C A OCCC_66 p.P879T MSH3 5 80088644 80088644 + Missense_Mutation C A OCCC_66 p.P879Q ANK3 10 61829936 61829936 + Missense_Mutation C T OCCC_66 p.G3568E KRAS 12 25398284 25398284 + Missense_Mutation C A OCCC_66 p.G12V AHNAK2 14 105413284 105413284 + Missense_Mutation G A OCCC_66 p.S2835L CASKIN1 16 2230814 2230814 + Missense_Mutation G A OCCC_66 p.A852V CDC27 17 45235598 45235598 + Missense_Mutation G T OCCC_66 p.S150Y OBSCN 1 228522798 228522798 + Missense_Mutation G T OCCC_19 p.V5402L LRP1B 2 141625780 141625780 + Missense_Mutation A T OCCC_19 p.S1408T LRP1B 2 141625782 141625782 + Missense_Mutation G T OCCC_19 p.A1407D MUC4 3 195477909 195477909 + Missense_Mutation C T OCCC_19 p.R1005Q MUC17 7 100683723 100683723 + Missense_Mutation G C OCCC_19 p.R3009T AHNAK 11 62295549 62295549 + Missense_Mutation C T OCCC_19 p.A2114T EVPL 17 74003794 74003794 + Missense_Mutation T C OCCC_19 p.Y1831C VASP 19 46021012 46021012 + Missense_Mutation T A OCCC_19 p.F33I VASP 19 46021013 46021013 + Missense_Mutation T G OCCC_19 p.F33C LAMA5 20 60905992 60905992 + Missense_Mutation C A OCCC_19 p.C1220F FLG 1 152280430 152280430 + Missense_Mutation G C OCCC_51 p.S2311C FLG2 1 152324093 152324093 + Missense_Mutation G C OCCC_51 p.Q2057E FLG2 1 152324146 152324146 + Missense_Mutation T G OCCC_51 p.H2039P FLG2 1 152328192 152328192 + Missense_Mutation A C OCCC_51 p.H690Q SPTA1 1 158604407 158604407 + Missense_Mutation C G OCCC_51 p.E1831Q OBSCN 1 228463635 228463635 + Missense_Mutation G A OCCC_51 p.R2043H OBSCN 1 228475464 228475464 + Missense_Mutation G A OCCC_51 p.R3205H CELSR3 3 48689456 48689456 + Missense_Mutation G C OCCC_51 p.S1926C MUC4 3 195512117 195512117 + Missense_Mutation C G OCCC_51 p.A2112P DSP 6 7585846 7585846 + Missense_Mutation C T OCCC_51 p.S2784F PLEC 8 144999110 144999110 + Missense_Mutation C G OCCC_51 p.E1800Q AHNAK 11 62284251 62284251 + Missense_Mutation C T OCCC_51 p.E5880K MUC19 12 40876710 40876710 + Missense_Mutation C T OCCC_51 p.P2752L AHNAK2 14 105412801 105412801 + Missense_Mutation G C OCCC_51 p.S2996C CASKIN1 16 2230236 2230236 + Missense_Mutation C G OCCC_51 p.A1045P KRT10 17 38975232 38975232 + Missense_Mutation T C OCCC_51 p.S519G EVPL 17 74010545 74010545 + Missense_Mutation C A OCCC_51 p.G779C ARID3A 19 932572 932572 + Nonsense_Mutation C T OCCC_51 p.R175* LAMA5 20 60889911 60889911 + Missense_Mutation C T OCCC_51 p.A2714T FLG2 1 152324440 152324440 + Missense_Mutation A G OCCC_33 p.I1941T AHNAK2 14 105412100 105412100 + Missense_Mutation G C OCCC_33 p.Q3230E LAMA5 20 60909672 60909672 + Missense_Mutation G A OCCC_33 p.R830W SPTBN2 11 66460644 66460666 + Splice_Site TCCTGGCCCTCACCTTGGCCTTC - OCCC_33 p.EKAKV1615fs PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_06 p.H1047R DMRTB1 1 53925412 53925412 + Missense_Mutation C T OCCC_59 p.R96C TCHH 1 152084066 152084066 + Missense_Mutation C T OCCC_59 p.E543K HRNR 1 152189067 152189067 + Missense_Mutation C T OCCC_59 p.G1680R FLG 1 152282178 152282178 + Missense_Mutation C G OCCC_59 p.E1728D CELSR3 3 48685349 48685349 + Nonsense_Mutation G A OCCC_59 p.R2352* MUC4 3 195515449 195515449 + Missense_Mutation A G OCCC_59 p.V1001A DSP 6 7579931 7579931 + Missense_Mutation G A OCCC_59 p.E1170K MUC17 7 100683644 100683644 + Missense_Mutation G A OCCC_59 p.G2983S PLEC 8 144995227 144995227 + Missense_Mutation G A OCCC_59 p.T3058M SPTBN2 11 66461627 66461627 + Missense_Mutation C T OCCC_59 p.D1496N KRT5 12 52912805 52912805 + Missense_Mutation C T OCCC_59 p.S232N AHNAK2 14 105408172 105408172 + Missense_Mutation A C OCCC_59 p.V4539G AHNAK2 14 105412720 105412720 + Missense_Mutation G T OCCC_59 p.T3023N AHNAK2 14 105419313 105419313 + Missense_Mutation C G OCCC_59 p.E825D XPO6 16 28128712 28128712 + Missense_Mutation C T OCCC_59 p.R644Q EVPL 17 74005742 74005742 + Missense_Mutation C T OCCC_59 p.V1182M DST 6 56457157 56457158 + Splice_Site CT - OCCC_59 MUC19 12 40858220 40858228 + Splice_Site CAGGAAGTA - OCCC_59 p.QEV1199del HRNR 1 152186844 152186844 + Missense_Mutation G A OCCC_44 p.R2421C HRNR 1 152187048 152187048 + Missense_Mutation C T OCCC_44 p.G2353S HRNR 1 152187194 152187194 + Missense_Mutation C A OCCC_44 p.R2304L HRNR 1 152192259 152192259 + Missense_Mutation T C OCCC_44 p.T616A OBSCN 1 228432198 228432198 + Missense_Mutation C T OCCC_44 p.A1136V ZNF717 3 75786036 75786036 + Missense_Mutation A G OCCC_44 p.F863S ZNF717 3 75788217 75788217 + Missense_Mutation G A OCCC_44 p.T136I MSH3 5 79950724 79950724 + Missense_Mutation G C OCCC_44 p.A60P MUC17 7 100679782 100679782 + Missense_Mutation A G OCCC_44 p.I1695M MUC17 7 100679783 100679783 + Missense_Mutation A C OCCC_44 p.T1696P MUC17 7 100683099 100683099 + Missense_Mutation C G OCCC_44 p.P2801R AHNAK2 14 105413588 105413588 + Missense_Mutation G C OCCC_44 p.L2734V EVPL 17 74019680 74019680 + Missense_Mutation C T OCCC_44 p.R85H ARID1A 1 27099122 27099122 + Splice_Site - G OCCC_44 p.S1180fs HRNR 1 152185695 152185695 + Missense_Mutation C A OCCC_08 p.G2804C HRNR 1 152187879 152187879 + Missense_Mutation T C OCCC_08 p.R2076G OBSCN 1 228400030 228400030 + Nonsense_Mutation C A OCCC_08 p.Y182* OBSCN 1 228505767 228505767 + Missense_Mutation G T OCCC_08 p.G4675V MUC17 7 100680579 100680579 + Missense_Mutation C A OCCC_08 p.S1961Y HELZ2 20 62195277 62195277 + Missense_Mutation G A OCCC_08 p.P1633L LRP1B 2 141267574 141267574 + Missense_Mutation C A OCCC_15 p.C2774F EYA2 20 45801437 45801437 + Missense_Mutation G A OCCC_15 p.V374M OBSCN 1 228463548 228463548 + Missense_Mutation C A OCCC_49 p.P2014Q FLG 1 152286344 152286344 + Missense_Mutation C G OCCC_39 p.D340H ANK3 10 61832367 61832367 + Missense_Mutation C T OCCC_39 p.V2758I SPTBN2 11 66481105 66481105 + Missense_Mutation C T OCCC_39 p.E257K MUC19 12 40876494 40876494 + Missense_Mutation T C OCCC_39 p.I2680T EYA2 20 45812004 45812004 + Missense_Mutation G A OCCC_39 p.G501S MAPK1 22 22160188 22160188 + Missense_Mutation C T OCCC_39 p.R148H PIK3CA 3 178952007 178952007 + Missense_Mutation A G OCCC_62 p.Y1021C UNC13B 9 35376074 35376074 + Missense_Mutation C T OCCC_62 p.S473L KRT1 12 53071200 53071200 + Missense_Mutation C T OCCC_62 p.R343H AHNAK2 14 105418508 105418508 + Missense_Mutation C A OCCC_62 p.V1094L LAMA5 20 60908258 60908258 + Missense_Mutation G A OCCC_62 p.S1057L PIK3CA 3 178936067 178936067 + Nonsense_Mutation C T OCCC_31 p.R537* MUC4 3 195515006 195515006 + Missense_Mutation G C OCCC_31 p.H1149D MUC17 7 100683472 100683472 + Missense_Mutation A T OCCC_31 p.E2925D MUC17 7 100683474 100683474 + Missense_Mutation T G OCCC_31 p.V2926G UNC13B 9 35382464 35382464 + Missense_Mutation A C OCCC_31 p.N840T AHNAK 11 62289981 62289981 + Missense_Mutation C T OCCC_31 p.V3970I OBSCN 1 228566387 228566387 + Missense_Mutation G A OCCC_11 p.R7933Q CTNNB1 3 41266097 41266097 + Missense_Mutation G T OCCC_11 p.D32Y PLEC 8 144997792 144997792 + Missense_Mutation C T OCCC_11 p.R2239H AHNAK2 14 105412466 105412466 + Missense_Mutation C T OCCC_11 p.G3108S CDC27 17 45249432 45249432 + Splice_Site T A OCCC_11 CDC27 17 45249431 45249431 + Splice_Site C - OCCC_11 EVPL 17 74019372 74019372 + Splice_Site - CTGTTTCTGCTCCAGCACGCGTGCCCAGAAACAGGTCAGGAA OCCC_11 ARID1A 1 27100070 27100070 + Splice_Site G A OCCC_07 FLG2 1 152331330 152331330 + Missense_Mutation C T OCCC_07 p.V11I PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_07 p.H1047R PPP2R1A 19 52715970 52715970 + Missense_Mutation C A OCCC_07 p.P179T PLEC 8 145004373 145004373 + Missense_Mutation C T OCCC_20 p.V988M PLEC 8 145005812 145005812 + Missense_Mutation G A OCCC_20 p.R869W KRT10 17 38975261 38975261 + Missense_Mutation G A OCCC_20 p.S509F LAMA5 20 60910229 60910295 + Splice_Site CCAGTGTGCCCCCAAATCCCCCACACCTTGGTCCTCAGACTCACCGGCTGGCACTCAGCAACTCCAC - OCCC_20 p.GGVAECQP785fs PIK3CA 3 178919287 178919287 + Missense_Mutation G T OCCC_14 p.D258Y MUC4 3 195489009 195489009 + Missense_Mutation C G OCCC_14 p.A585P MUC19 12 40878078 40878078 + Missense_Mutation C T OCCC_14 p.T3208I AHNAK2 14 105420865 105420865 + Missense_Mutation C T OCCC_14 p.R308H TCHH 1 152083846 152083846 + Missense_Mutation C A OCCC_43 p.R616L FLG 1 152284450 152284450 + Missense_Mutation C T OCCC_43 p.R971H OBSCN 1 228399923 228399923 + Missense_Mutation G A OCCC_43 p.G147R CELSR3 3 48696988 48696988 + Missense_Mutation C T OCCC_43 p.R1027Q DST 6 56346870 56346870 + Missense_Mutation C T OCCC_43 p.R6850Q PLEC 8 144999694 144999694 + Missense_Mutation C T OCCC_43 p.R1605H PLEC 8 145001886 145001886 + Missense_Mutation G A OCCC_43 p.R1287W UNC13B 9 35403941 35403941 + Missense_Mutation C T OCCC_43 p.R1563W ANK3 10 61834631 61834631 + Missense_Mutation T A OCCC_43 p.Q2003L SPTB 14 65240080 65240080 + Missense_Mutation G A OCCC_43 p.A1679V AHNAK2 14 105418067 105418067 + Missense_Mutation C T OCCC_43 p.G1241S EYA2 20 45725802 45725802 + Missense_Mutation G A OCCC_43 p.G295R LAMA5 20 60885861 60885861 + Missense_Mutation G A OCCC_43 p.R3436W MAPK8IP2 22 51042592 51042592 + Missense_Mutation C T OCCC_43 p.R23C MAGEE1 X 75648374 75648374 + Missense_Mutation G T OCCC_43 p.K17N RPTN 1 152128196 152128196 + Missense_Mutation C T OCCC_46 p.S460N DSPP 4 88536980 88536980 + Missense_Mutation A G OCCC_46 p.N1056D MUC17 7 100683179 100683179 + Missense_Mutation G A OCCC_46 p.G2828S PLEC 8 144991180 144991180 + Nonsense_Mutation C T OCCC_46 p.W4407* AHNAK2 14 105413066 105413066 + Missense_Mutation T C OCCC_46 p.K2908E AHNAK2 14 105418918 105418918 + Missense_Mutation C A OCCC_46 p.G957V ARID1A 1 27101099 27101099 + Nonsense_Mutation C T OCCC_21 p.R1461* FLG 1 152282672 152282672 + Missense_Mutation G C OCCC_21 p.P1564A LRP1B 2 141459361 141459361 + Missense_Mutation G A OCCC_21 p.T2119M CELSR3 3 48681704 48681704 + Missense_Mutation C T OCCC_21 p.A2704T CELSR3 3 48697838 48697838 + Missense_Mutation C T OCCC_21 p.V744M PIK3CA 3 178936083 178936083 + Missense_Mutation A G OCCC_21 p.E542G PIK3CA 3 178952013 178952013 + Missense_Mutation G A OCCC_21 p.R1023Q MUC17 7 100685327 100685327 + Missense_Mutation T A OCCC_21 p.S3544T MUC19 12 40873956 40873956 + Missense_Mutation G T OCCC_21 p.G1834V MAPK8IP2 22 51044262 51044262 + Missense_Mutation G A OCCC_21 p.R409Q HRNR 1 152187606 152187606 + Missense_Mutation G A OCCC_53 p.R2167C LOR 1 153233513 153233513 + Missense_Mutation G A OCCC_53 p.G30S LRP1B 2 141660736 141660736 + Splice_Site T A OCCC_53 PIK3CA 3 178936082 178936082 + Missense_Mutation G C OCCC_53 p.E542Q PLEC 8 144990707 144990707 + Missense_Mutation C T OCCC_53 p.V4565M ANK3 10 61956385 61956385 + Splice_Site T A OCCC_53 AHNAK2 14 105411020 105411020 + Missense_Mutation C T OCCC_53 p.A3590T AHNAK2 14 105418481 105418481 + Missense_Mutation C T OCCC_53 p.V1103I AKT2 19 40741948 40741948 + Missense_Mutation C T OCCC_53 p.E342K MAPK1 22 22153396 22153396 + Missense_Mutation G A OCCC_53 p.R172C OBSCN 1 228494303 228494342 + Splice_Site GGCTCCCAGGCCACCAGTGCCACCCTCACTGTCACAGGTG - OCCC_53 p.GSQATSATLTVTG3964fs CASKIN1 16 2239567 2239567 + Splice_Site - G OCCC_53 PIK3CA 3 178936082 178936082 + Missense_Mutation G A OCCC_26 p.E542K UNC13B 9 35403873 35403873 + Missense_Mutation G A OCCC_26 p.G1540D CDK12 17 37646866 37646866 + Missense_Mutation G A OCCC_26 p.R663H ARID1A 1 27058029 27058029 + Nonsense_Mutation T G OCCC_27 p.Y579* ARID1A 1 27106621 27106621 + Nonsense_Mutation G T OCCC_27 p.E2078* FLG 1 152285252 152285252 + Missense_Mutation C G OCCC_27 p.A704P OBSCN 1 228564757 228564757 + Missense_Mutation C T OCCC_27 p.R7682C CTNNB1 3 41266097 41266097 + Missense_Mutation G T OCCC_27 p.D32Y CTNNB1 3 41275239 41275239 + Missense_Mutation C T OCCC_27 p.R469C PIK3CA 3 178951955 178951955 + Missense_Mutation A G OCCC_27 p.M1004V PLEC 8 145007424 145007424 + Missense_Mutation G T OCCC_27 p.F590L KRT1 12 53070208 53070208 + Missense_Mutation G C OCCC_27 p.N442K AHNAK2 14 105412500 105412500 + Missense_Mutation G C OCCC_27 p.D3096E AHNAK2 14 105413588 105413588 + Missense_Mutation G C OCCC_27 p.L2734V AHNAK2 14 105416455 105416455 + Missense_Mutation A G OCCC_27 p.M1778T PPP2R1A 19 52715983 52715983 + Missense_Mutation G A OCCC_27 p.R183Q MAPK8IP2 22 51041925 51041925 + Nonsense_Mutation C T OCCC_27 p.Q149* ARID1A 1 27023904 27023904 + Nonsense_Mutation G A OCCC_05 p.W337* FLG2 1 152328546 152328546 + Missense_Mutation C A OCCC_05 p.L572F FLG2 1 152328547 152328547 + Missense_Mutation A G OCCC_05 p.L572S PIK3CA 3 178928226 178928226 + Missense_Mutation C T OCCC_05 p.P471L UNC13B 9 35403903 35403903 + Missense_Mutation G A OCCC_05 p.R1550Q ANK3 10 61829919 61829919 + Missense_Mutation G A OCCC_05 p.R3574C AHNAK 11 62288810 62288810 + Missense_Mutation C T OCCC_05 p.S4360N HRNR 1 152190900 152190900 + Missense_Mutation T A OCCC_29 p.S1069C HRNR 1 152191862 152191862 + Missense_Mutation A G OCCC_29 p.L748S HRNR 1 152191964 152191964 + Missense_Mutation C G OCCC_29 p.S714T HRNR 1 152193378 152193378 + Missense_Mutation C T OCCC_29 p.G243S FLG 1 152277315 152277315 + Missense_Mutation C G OCCC_29 p.E3349D OBSCN 1 228494989 228494989 + Missense_Mutation C A OCCC_29 p.Q4075K MUC17 7 100679059 100679059 + Missense_Mutation G C OCCC_29 p.K1454N MUC17 7 100679919 100679919 + Missense_Mutation A C OCCC_29 p.N1741T AHNAK 11 62290470 62290470 + Missense_Mutation C T OCCC_29 p.V3807M CASKIN1 16 2228904 2228904 + Splice_Site G A OCCC_29 p.R1400C OBSCN 1 228504548 228504548 + Missense_Mutation C T OCCC_64 p.P4475L OBSCN 1 228526694 228526694 + Missense_Mutation G A OCCC_64 p.R5742H LRP1B 2 141457870 141457870 + Missense_Mutation T C OCCC_64 p.N2250D PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_64 p.H1047R PLEC 8 145008841 145008841 + Missense_Mutation C T OCCC_64 p.D472N CDK12 17 37687306 37687306 + Missense_Mutation C T OCCC_64 p.R1404C LAMA5 20 60892464 60892464 + Missense_Mutation C T OCCC_64 p.R2483H HELZ2 20 62191879 62191879 + Missense_Mutation C T OCCC_64 p.E2485K TCHH 1 152083325 152083325 + Missense_Mutation A T OCCC_60 p.L790M OBSCN 1 228559450 228559450 + Missense_Mutation G A OCCC_60 p.G6991R PIK3CA 3 178936094 178936094 + Missense_Mutation C G OCCC_60 p.Q546E PLEC 8 144999935 144999935 + Missense_Mutation G A OCCC_60 p.R1525W AHNAK 11 62291300 62291300 + Missense_Mutation T C OCCC_60 p.K3530R KRAS 12 25398284 25398284 + Missense_Mutation C T OCCC_60 p.G12D CASKIN1 16 2239305 2239305 + Missense_Mutation G T OCCC_60 p.N140K MINK1 17 4794986 4794986 + Missense_Mutation G A OCCC_60 p.R659H SPTBN4 19 40978640 40978640 + Missense_Mutation G A OCCC_60 p.A38T PPP2R1A 19 52715983 52715983 + Missense_Mutation G T OCCC_60 p.R183L HELZ2 20 62191410 62191410 + Missense_Mutation T C OCCC_60 p.T2566A HELZ2 20 62194713 62194713 + Missense_Mutation A T OCCC_60 p.L1821Q FLG 1 152278643 152278643 + Missense_Mutation A G OCCC_57 p.W2907R FLG 1 152282506 152282506 + Missense_Mutation T A OCCC_57 p.Y1619F FLG 1 152282507 152282507 + Missense_Mutation A G OCCC_57 p.Y1619H FLG 1 152284081 152284081 + Missense_Mutation G T OCCC_57 p.P1094H FLG2 1 152326837 152326837 + Missense_Mutation G C OCCC_57 p.A1142G MUC4 3 195506887 195506887 + Missense_Mutation A G OCCC_57 p.M3855T MSH3 5 80064770 80064770 + Missense_Mutation G A OCCC_57 p.R734Q AHNAK 11 62292801 62292801 + Missense_Mutation A T OCCC_57 p.F3030I AHNAK 11 62295216 62295216 + Missense_Mutation C T OCCC_57 p.V2225M KRAS 12 25398281 25398281 + Missense_Mutation C T OCCC_57 p.G13D AHNAK2 14 105411448 105411448 + Missense_Mutation C T OCCC_57 p.R3447K AHNAK2 14 105413093 105413093 + Missense_Mutation C A OCCC_57 p.V2899L CDC27 17 45214689 45214689 + Missense_Mutation C T OCCC_57 p.R581Q HRNR 1 152191577 152191577 + Missense_Mutation C T OCCC_13 p.R843Q FLG2 1 152326978 152326978 + Missense_Mutation T C OCCC_13 p.N1095S PIK3CA 3 178936091 178936091 + Missense_Mutation G A OCCC_13 p.E545K DST 6 56480838 56480838 + Missense_Mutation G A OCCC_13 p.A2476V MUC17 7 100681363 100681363 + Missense_Mutation C A OCCC_13 p.F2222L AHNAK 11 62296059 62296059 + Missense_Mutation C A OCCC_13 p.V1944L KRAS 12 25398281 25398281 + Missense_Mutation C T OCCC_13 p.G13D MUC19 12 40835768 40835768 + Nonsense_Mutation A T OCCC_13 p.K706* MUC19 12 40878843 40878843 + Missense_Mutation A G OCCC_13 p.E3463G AHNAK2 14 105412294 105412294 + Missense_Mutation A G OCCC_13 p.L3165S PPP2R1A 19 52716326 52716326 + Missense_Mutation G T OCCC_13 p.W257L EVPL 17 74006625 74006625 + Splice_Site - CTGACTTCTGGGCCCTTCCTTCCTTTTTTTTTTTTTTTTTTTT OCCC_13 ARID1A 1 27100369 27100369 + Missense_Mutation A G OCCC_56 p.M1361V FLG 1 152286281 152286281 + Missense_Mutation C T OCCC_56 p.A361T PIK3CA 3 178952085 178952085 + Missense_Mutation A G OCCC_56 p.H1047R PTPRN2 7 157449185 157449185 + Missense_Mutation G A OCCC_56 p.T687M MUC19 12 40878258 40878258 + Missense_Mutation C T OCCC_56 p.T3268I MUC19 12 40878260 40878260 + Missense_Mutation A G OCCC_56 p.T3269A KRT10 17 38975298 38975298 + Missense_Mutation C A OCCC_56 p.G497C TCHH 1 152084549 152084549 + Missense_Mutation G C OCCC_09 p.Q382E HRNR 1 152191783 152191783 + Missense_Mutation G C OCCC_09 p.H774Q FLG 1 152277106 152277106 + Missense_Mutation C T OCCC_09 p.R3419Q FLG 1 152279642 152279642 + Missense_Mutation G C OCCC_09 p.Q2574E FLG 1 152279952 152279952 + Missense_Mutation A T OCCC_09 p.S2470R OBSCN 1 228432152 228432152 + Missense_Mutation G C OCCC_09 p.G1121R OBSCN 1 228467542 228467542 + Missense_Mutation C T OCCC_09 p.R2473W OBSCN 1 228476583 228476583 + Missense_Mutation G A OCCC_09 p.V3445M OBSCN 1 228509289 228509289 + Missense_Mutation G A OCCC_09 p.R4916Q CELSR3 3 48679349 48679349 + Missense_Mutation C T OCCC_09 p.R2920Q SHROOM3 4 77662516 77662516 + Missense_Mutation G A OCCC_09 p.D1064N SHROOM3 4 77662664 77662664 + Missense_Mutation G A OCCC_09 p.R1113H MUC17 7 100683102 100683102 + Missense_Mutation C T OCCC_09 p.T2802I MUC17 7 100683800 100683800 + Missense_Mutation G A OCCC_09 p.G3035S MUC17 7 100684875 100684875 + Missense_Mutation G C OCCC_09 p.S3393T PTPRN2 7 157370768 157370768 + Missense_Mutation C T OCCC_09 p.R854Q UNC13B 9 35396918 35396918 + Missense_Mutation G A OCCC_09 p.R1090Q UNC13B 9 35403978 35403978 + Missense_Mutation G A OCCC_09 p.R1575Q AHNAK 11 62303477 62303477 + Missense_Mutation C T OCCC_09 p.V32I AHNAK2 14 105410716 105410716 + Missense_Mutation G T OCCC_09 p.P3691H AHNAK2 14 105414686 105414686 + Missense_Mutation C T OCCC_09 p.V2368I AHNAK2 14 105414938 105414938 + Missense_Mutation C T OCCC_09 p.V2284M VASP 19 46021211 46021211 + Missense_Mutation C T OCCC_09 p.R68W HELZ2 20 62195085 62195085 + Missense_Mutation G A OCCC_09 p.A1697V MAPK8IP2 22 51042637 51042637 + Missense_Mutation G A OCCC_09 p.A38T MAPK8IP2 22 51045156 51045156 + Missense_Mutation G A OCCC_09 p.R466Q SPTA1 1 158637741 158637741 + Nonsense_Mutation C A OCCC_36 p.E649* PIK3CA 3 178916876 178916876 + Missense_Mutation G A OCCC_36 p.R88Q PIK3CA 3 178952072 178952072 + Missense_Mutation A G OCCC_36 p.M1043V MUC17 7 100683008 100683008 + Missense_Mutation G C OCCC_36 p.V2771L KRT5 12 52910517 52910517 + Missense_Mutation C T OCCC_36 p.R448Q HRNR 1 152187900 152187900 + Missense_Mutation C T OCCC_02 p.G2069S HRNR 1 152191425 152191425 + Missense_Mutation C T OCCC_02 p.G894S FLG 1 152282147 152282147 + Missense_Mutation G T OCCC_02 p.Q1739K FLG 1 152282753 152282753 + Missense_Mutation G A OCCC_02 p.P1537S FLG 1 152283598 152283598 + Missense_Mutation T C OCCC_02 p.E1255G FLG 1 152285686 152285686 + Missense_Mutation T C OCCC_02 p.H559R PIK3CA 3 178936082 178936082 + Missense_Mutation G A OCCC_02 p.E542K MUC4 3 195506438 195506438 + Missense_Mutation T C OCCC_02 p.S4005G AHNAK2 14 105416839 105416839 + Missense_Mutation G T OCCC_02 p.A1650E CASKIN1 16 2229188 2229188 + Missense_Mutation C T OCCC_02 p.R1305Q MINK1 17 4788808 4788808 + Missense_Mutation G A OCCC_02 p.R180H HELZ2 20 62203578 62203578 + Missense_Mutation G C OCCC_02 p.A54G FLG2 1 152327408 152327408 + Missense_Mutation T C OCCC_24 p.R952G FLG2 1 152328778 152328778 + Missense_Mutation C T OCCC_24 p.C495Y SPTA1 1 158605725 158605725 + Missense_Mutation G A OCCC_24 p.L1804F OBSCN 1 228469825 228469825 + Missense_Mutation C T OCCC_24 p.R2797W SHROOM3 4 77677618 77677618 + Missense_Mutation A G OCCC_24 p.K1576E MUC17 7 100675451 100675451 + Missense_Mutation C G OCCC_24 p.Q252E MUC17 7 100676667 100676667 + Missense_Mutation A G OCCC_24 p.N657S MUC17 7 100677995 100677995 + Missense_Mutation A G OCCC_24 p.S1100G MUC17 7 100678029 100678029 + Missense_Mutation G C OCCC_24 p.R1111T PTPRN2 7 157929370 157929370 + Missense_Mutation C T OCCC_24 p.D384N KRT5 12 52912805 52912805 + Missense_Mutation C T OCCC_24 p.S232N PPP2R1A 19 52716323 52716323 + Missense_Mutation C T OCCC_24 p.S256F CDC27 17 45232154 45232154 + Splice_Site - TGGGGTTAATG OCCC_24 DSP 6 7580658 7580658 + Missense_Mutation T A OCCC_28 p.L1412Q DSP 6 7585432 7585432 + Missense_Mutation C T OCCC_28 p.T2646M LAMA5 20 60909062 60909062 + Missense_Mutation G A OCCC_28 p.P925S MUC4 3 195506386 195506386 + Missense_Mutation G A OCCC_65 p.P4022L AHNAK 11 62298252 62298252 + Missense_Mutation C T OCCC_65 p.V1213M KRAS 12 25398285 25398285 + Missense_Mutation C A OCCC_65 p.G12C DST 6 56417688 56417688 + Missense_Mutation G A OCCC_10 p.S5090L MUC17 7 100677582 100677582 + Missense_Mutation C G OCCC_10 p.T962S FLG2 1 152327579 152327579 + Missense_Mutation T A OCCC_58 p.S895C SPTA1 1 158592886 158592886 + Missense_Mutation A T OCCC_58 p.S2003T OBSCN 1 228433270 228433270 + Missense_Mutation G A OCCC_58 p.R1213H OBSCN 1 228506756 228506756 + Missense_Mutation C T OCCC_58 p.S4768L PIK3CA 3 178936082 178936082 + Missense_Mutation G A OCCC_58 p.E542K MUC4 3 195506555 195506555 + Missense_Mutation C T OCCC_58 p.A3966T SHROOM3 4 77676308 77676308 + Missense_Mutation C G OCCC_58 p.Q1558E MUC17 7 100680105 100680105 + Missense_Mutation T C OCCC_58 p.L1803P AHNAK 11 62295576 62295576 + Missense_Mutation G A OCCC_58 p.L2105F AHNAK2 14 105414686 105414686 + Missense_Mutation C T OCCC_58 p.V2368I AHNAK2 14 105419180 105419180 + Missense_Mutation A G OCCC_58 p.S870P HELZ2 20 62191383 62191383 + Missense_Mutation G A OCCC_58 p.R2575W NEURL1B 5 172113300 172113301 + Splice_Site GT - OCCC_58 FLG 1 152278594 152278594 + Missense_Mutation A T OCCC_54 p.L2923Q FLG2 1 152323277 152323277 + Nonsense_Mutation G A OCCC_54 p.Q2329* MUC19 12 40876126 40876126 + Missense_Mutation T G OCCC_54 p.H2557Q CDC27 17 45235598 45235598 + Missense_Mutation G T OCCC_54 p.S150Y DSP 6 7570774 7570804 + Splice_Site TCAGGGCCATGACAATCGCCAAGGTATGTCC - OCCC_54 p.IRAMTIAK560fs FLG2 1 152326057 152326057 + Missense_Mutation C G OCCC_12 p.G1402A FLG2 1 152326058 152326058 + Missense_Mutation C A OCCC_12 p.G1402C SPTA1 1 158606445 158606445 + Missense_Mutation C T OCCC_12 p.E1766K MUC19 12 40878306 40878306 + Missense_Mutation G A OCCC_12 p.G3284E ARID1A 1 27099958 27099958 + Nonsense_Mutation T A OCCC_40 p.Y1279* FLG 1 152280083 152280083 + Missense_Mutation C T OCCC_40 p.A2427T FLG2 1 152325292 152325292 + Missense_Mutation C G OCCC_40 p.S1657T FLG2 1 152328192 152328192 + Missense_Mutation A C OCCC_40 p.H690Q CELSR3 3 48698864 48698864 + Missense_Mutation G A OCCC_40 p.R402C PIK3CA 3 178936082 178936082 + Missense_Mutation G A OCCC_40 p.E542K PIK3CA 3 178938935 178938935 + Missense_Mutation A C OCCC_40 p.E726A MSH3 5 79950724 79950724 + Missense_Mutation G C OCCC_40 p.A60P DSP 6 7558461 7558461 + Missense_Mutation G A OCCC_40 p.R129Q DST 6 56485116 56485116 + Missense_Mutation C T OCCC_40 p.R1239H MUC17 7 100676360 100676360 + Missense_Mutation C G OCCC_40 p.P555A PLEC 8 144997144 144997144 + Missense_Mutation G A OCCC_40 p.A2455V AHNAK2 14 105411236 105411236 + Missense_Mutation C T OCCC_40 p.A3518T AHNAK2 14 105413372 105413372 + Missense_Mutation T C OCCC_40 p.M2806V AHNAK2 14 105414134 105414134 + Missense_Mutation G A OCCC_40 p.P2552S AHNAK2 14 105414343 105414343 + Missense_Mutation C T OCCC_40 p.R2482K AHNAK2 14 105418818 105418818 + Missense_Mutation G C OCCC_40 p.D990E XPO6 16 28167850 28167850 + Splice_Site T A OCCC_40 EVPL 17 74005187 74005187 + Missense_Mutation C T OCCC_40 p.E1367K EYA2 20 45801390 45801390 + Missense_Mutation C T OCCC_40 p.S358L HELZ2 20 62191321 62191321 + Missense_Mutation A T OCCC_40 p.N2595K MAGEE1 X 75648993 75648993 + Missense_Mutation G A OCCC_40 p.V224M MAGEE1 X 75650068 75650068 + Missense_Mutation G T OCCC_40 p.G582V RPTN 1 152129136 152129136 + Missense_Mutation C T OCCC_23 p.G147S FLG 1 152282120 152282120 + Missense_Mutation G T OCCC_23 p.Q1748K FLG2 1 152327858 152327858 + Missense_Mutation T C OCCC_23 p.S802G MUC17 7 100676109 100676109 + Missense_Mutation A C OCCC_23 p.N471T AHNAK 11 62295801 62295801 + Missense_Mutation T C OCCC_23 p.M2030V AHNAK2 14 105410322 105410322 + Missense_Mutation A C OCCC_23 p.I3822M AHNAK2 14 105419653 105419653 + Missense_Mutation A G OCCC_23 p.L712P AHNAK2 14 105419654 105419654 + Missense_Mutation G A OCCC_23 p.L712F CDC27 17 45235670 45235670 + Splice_Site - AATATACA OCCC_23 FLG 1 152284655 152284655 + Missense_Mutation T C OCCC_38 p.R903G OBSCN 1 228464942 228464942 + Missense_Mutation G A OCCC_38 p.E2228K SHROOM3 4 77661952 77661952 + Missense_Mutation C T OCCC_38 p.R876C DST 6 56329528 56329528 + Missense_Mutation G A OCCC_38 p.R7252C DST 6 56481864 56481864 + Missense_Mutation G A OCCC_38 p.T2134M PLEC 8 144996830 144996830 + Missense_Mutation C T OCCC_38 p.A2560T AHNAK 11 62292766 62292766 + Missense_Mutation A T OCCC_38 p.D3041E AHNAK 11 62294381 62294381 + Missense_Mutation G C OCCC_38 p.A2503G SPTBN2 11 66461717 66461717 + Missense_Mutation C T OCCC_38 p.V1466M XPO6 16 28187305 28187305 + Missense_Mutation G A OCCC_38 p.R107W PPP2R1A 19 52716301 52716301 + Missense_Mutation C T OCCC_38 p.R249C Hugo_Symbol chromosome Start_Position End_Position Strand Variant_Classification Tumor_Seq_Allele1 Tumor_Seq_Allele2 Tumor_Samle_Barcode protein_change ARID1A 1 27099889 27099889 + Frame_Shift_Del G - OCCC_22 p.M1256fs DMRTB1 1 53925429 53925441 + Frame_Shift_Del GACTCCCTCCGGA - OCCC_22 p.GTPSG101fs DSPP 4 88535833 88535850 + In_Frame_Del TAGCAGTGACAGCAGCAG - OCCC_22 p.SSDSSS674del MUC19 12 40876443 40876475 + In_Frame_Del CAGCTGGAGTGACAGGTACAAATGGACCATCAT - OCCC_22 p.AGVTGTNGPSS2664del MAPK8IP2 22 51042073 51042073 + Frame_Shift_Ins - GAGGCTTTGACCTGGTGCGTCCGGCCTAAGCCTCCGTTGTT OCCC_22 p.G156fs ARID1A 1 27023145 27023162 + In_Frame_Del GCGGCGGCGGAGCCGGCA - OCCC_37 p.GGGAGS85del LOR 1 153233487 153233510 + In_Frame_Del GCGGCGGTGGCGGTGGCGGCGGCA - OCCC_37 p.GGGGGGGS22del ZNF717 3 75787230 75787313 + In_Frame_Del GTTTTCCCACATTCATTGCATTCGTAGGGTTTTTCCCCTGTGTGAGTCCATTGATGGATAGTGAGGAATGACTTACGGTGAAAC - OCCC_37 p.437_465TFHRKSFLTIHQWTHTGEKPYECNECGKT>T DST 6 56470589 56470589 + In_Frame_Ins - TAT OCCC_37 p.2734_2735insN PLEC 8 145003635 145003679 + In_Frame_Del GCAGCCGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCT - OCCC_37 p.QLEACETRTVHRLRL1132del ANK3 10 61828704 61828745 + In_Frame_Del TGGTGGTGGTGGTAGTGGTGGTAGTGGTGGTGGTGGTGGCAG - OCCC_37 p.TATTTTTTTTTTTT3965del KRTAP5-2 11 1618958 1619017 + In_Frame_Del ACTGGCAGCACACAGGGACACAACAGTTGGACTGGCAGCAACAGGGCTTGCAGCAGCTGG - OCCC_37 p.SSCCKPCCCQSNCCVPVCCQ155del MUC19 12 40878865 40878924 + In_Frame_Del ATCACCTGGGGTGACAGGGACAACTGGATCATCAACTGGGGTGACAGGGATAACTGGATT - OCCC_37 p.SPGVTGTTGSSTGVTGITGL3471del KRT5 12 52913704 52913781 + In_Frame_Del CCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCA - OCCC_37 p.100_126GAGSGFGFGGGAGGGFGLGGGAGFGGG>G SPTB 14 65216035 65216035 + Frame_Shift_Ins - G OCCC_37 p.K2326fs CDK12 17 37687471 37687471 + Frame_Shift_Ins - G OCCC_37 p.W1459fs MAGEE1 X 75648505 75648540 + In_Frame_Del CTGAGGGCCCAAGCACCTCCGTTCTGCCCACCTCCG - OCCC_37 p.EGPSTSVLPTSA62del ARID1A 1 27099418 27099418 + Frame_Shift_Ins - A OCCC_50 p.D1219fs ARID1A 1 27106877 27106877 + Frame_Shift_Ins - C OCCC_50 p.C2163fs TCHH 1 152080845 152080868 + In_Frame_Del CTCCTGGCGCAGCTGTTGTTGGCC - OCCC_50 p.GQQQLRQE1609del FLG 1 152282104 152282104 + Frame_Shift_Ins - CACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCACCAAGAGTCCACACGTGGCCAGTCAGGGGAAAGGTCTGGA OCCC_50 p.G1753fs FLG2 1 152323402 152323402 + Frame_Shift_Ins - CTGGCTGTCTTTGTTGAGATCCAGCTTGGCCCTGAATGTGTCCTGAATGTGTGTGTGAG OCCC_50 p.G2287fs SPTA1 1 158641210 158641210 + Frame_Shift_Ins - GAAGAGAAGA OCCC_50 p.L508fs CELSR3 3 48677161 48677206 + Frame_Shift_Del GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT - OCCC_50 p.HTTATPSATASVLGPS3271fs SHROOM3 4 77677654 77677655 + Frame_Shift_Del GC - OCCC_50 p.A1589fs DSPP 4 88535832 88535832 + In_Frame_Ins - CAGTAGTGACAGCAGCAG OCCC_50 p.672_673insAVVTAA DSPP 4 88536263 88536277 + In_Frame_Del GATAGCGACAGCAGC - OCCC_50 p.DSDSS817del PLEC 8 144997994 144998029 + In_Frame_Del GCCGCGCCGACTCCTGCTCCGCTCGCTCCCGCAGGC - OCCC_50 p.RLRERAEQESAR2160del MUC19 12 40873358 40873387 + In_Frame_Del ACAACTGGACCATCAGCTGACGGGTCAGGA - OCCC_50 p.TTGPSADGSG1635del MUC19 12 40878199 40878228 + In_Frame_Del AACTGGACTATCAGCTGAAGCAACAGAGAT - OCCC_50 p.TGLSAEATEI3249del MINK1 17 4789807 4789848 + In_Frame_Del CCCACGGAGCAGCTACTGAAGTTTCCCTTCATCCGGGACCAG - OCCC_50 p.PTEQLLKFPFIRDQ279del KRT10 17 38975120 38975137 + In_Frame_Del CCGCCGCCGGAGCTGCTG - OCCC_50 p.550_556GSSSGGG>G EVPL 17 74010547 74010551 + Frame_Shift_Del TCGCT - OCCC_50 p.SD777fs EVPL 17 74023206 74023232 + In_Frame_Del TTGGGGGACCCCTTGGCGGGGGAGCCC - OCCC_50 p.16_25KGSPAKGSPK>K SPTBN4 19 41062156 41062156 + Frame_Shift_Ins - A OCCC_50 p.G1751fs MAPK1 22 22221709 22221714 + In_Frame_Del CCGCCG - OCCC_50 p.AA6del TCHH 1 152081063 152081063 + In_Frame_Ins - CTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG OCCC_04 p.1543_1544insQRQRKFLQEEQQLRRQ FLG2 1 152327352 152327352 + In_Frame_Ins - TGACCTGAGCCTGATCCATGTTGGCCAAAGCCAGAGGAT OCCC_04 p.970_970Q>QSSGFGQHGSGSGQ FLG2 1 152328234 152328234 + In_Frame_Ins - CCTGAGCCAGAAACATGTTGTCCAAAGCCAGAGGACTGA OCCC_04 p.676_676G>GQSSGFGQHVSGSG MUC4 3 195512933 195512933 + In_Frame_Ins - GGTGGTGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGG OCCC_04 p.1839_1840insPLPVTDASSASTGDTTSLPVTIPSSASSGHTT DSPP 4 88535719 88535719 + In_Frame_Ins - AGTGACAGTAAGTCAGACAGCAGTGACAGCAACAGC OCCC_04 p.636_636S>RVTVSQTAVTATA DSPP 4 88536388 88536388 + In_Frame_Ins - AGTGACAGTAGTAATAGTAGTGACAGCAGCGATAGCAGTGACAGCAGCAACAGC OCCC_04 p.859_859S>RVTVVIVVTAAIAVTAATA MUC19 12 40876933 40876933 + In_Frame_Ins - ACAGGGACAACTGGACCATCACCTGGAGTAACAGGTACAACTGGAACACCAGCTGGGGTT OCCC_04 p.2827_2828insQGQLDHHLE*QVQLEHQLGL MUC19 12 40877751 40877751 + In_Frame_Ins - TGGATCATCAGCTGGGGTGACAGGGAAAAC OCCC_04 p.3099_3099I>MDHQLG*QGKL ARID1A 1 27100182 27100182 + Frame_Shift_Del G - OCCC_47 p.P1326fs LRP1B 2 141093297 141093297 + Frame_Shift_Ins - CAGTGAGTAGTGTAGTAACTGAACCAATGCATTCTAGAATGCATTGGTT OCCC_47 p.W4001fs MUC17 7 100678287 100678287 + In_Frame_Ins - CAGTTCACCTCCTCCAACTGCTGAAGTTACCAG OCCC_47 p.1197_1197A>AVHLLQLLKLPA MUC19 12 40877705 40877764 + In_Frame_Del GGGGTGACAGGGACAACTGGACTATCAGCTGGGGAGACAGGGAAAATTGGATCATCAGCT - OCCC_47 p.GVTGTTGLSAGETGKIGSSA3084del KRT1 12 53073801 53073830 + In_Frame_Del CCACCAAAGCCACCACCACCAAAGCCACCA - OCCC_47 p.101_111GGGFGGGGFGG>G AHNAK2 14 105419178 105419178 + Frame_Shift_Del G - OCCC_47 p.S871fs MINK1 17 4793912 4793932 + In_Frame_Del AACAGCAGCAGCAGCTTCAGA - OCCC_47 p.QQQQLQK484del HELZ2 20 62196884 62196884 + In_Frame_Ins - ACG OCCC_47 p.1098_1099insV FLG 1 152280877 152280878 + Frame_Shift_Del CC - OCCC_25 p.G2162fs MUC4 3 195506651 195506652 + Frame_Shift_Del CA - OCCC_25 p.A3934fs TCHH 1 152083757 152083795 + In_Frame_Del GCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCA - OCCC_01 p.LLKSEEQEERRQQ633del FLG2 1 152324557 152324557 + Frame_Shift_Ins - TG OCCC_01 p.S1902fs FLG2 1 152326888 152326926 + In_Frame_Del GACTGACCTGAGCCCGATCCATATTGGCCAAAGCCAGAG - OCCC_01 p.1112_1125SSGFGQYGSGSGQS>S LOR 1 153233584 153233628 + In_Frame_Del CTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTC - OCCC_01 p.SGGGGYSGGGCGGGS54del SPTA1 1 158581061 158581061 + Frame_Shift_Del C - OCCC_01 p.G2418fs OBSCN 1 228520964 228520964 + Frame_Shift_Del C - OCCC_01 p.L5266fs OBSCN 1 228523964 228523964 + In_Frame_Ins - AGGAAAGGTACAGTCAGGGTGGGTGCATGCTTGACTGTACCTTTCCTCTGCCCACCA OCCC_01 p.5511_5512insGKVQSGWVHA*LYLSSAHQ DSPP 4 88536974 88536982 + In_Frame_Del AGCAGCAAT - OCCC_01 p.SSN1054del DST 6 56437786 56437786 + In_Frame_Ins - CTTTTTGACTTTTTTTTTTTT OCCC_01 p.4227_4227T>KKKKSQKA MUC19 12 40876900 40876900 + Frame_Shift_Ins - GTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGTCT OCCC_01 p.-2816fs MUC19 12 40877413 40877442 + In_Frame_Del GACAGGGACAACTGGACCATCAGCTGGGGC - OCCC_01 p.TGTTGPSAGA2987del WWP2 16 69967951 69967951 + In_Frame_Ins - TGCCTGCAGATCAACCCCGCCTCCTCCATCAACCCGGGT OCCC_01 p.588_589insACRSTPPPPSTRV WWP2 16 69972971 69972971 + Frame_Shift_Ins - CAGTTTGTCACCGGTACCTGCCGCCTGCCCGGTGACAAACTGCAGCAGCCGGATC OCCC_01 p.Q796fs CDK12 17 37687209 37687209 + Frame_Shift_Ins - AAGAACAGGACCTTCTCAGGCTCTCTGAGCCACCTTGGAAGGTCCTGTTCTTCACCAGGGTC OCCC_01 p.-1372fs HELZ2 20 62197069 62197069 + Frame_Shift_Ins - CACCACGTCTTCCTTCACTGCGTCTCCTGCTGGTGAAGGAAGACGTGGTGCCCGGGGCACCACGT OCCC_01 p.P1036fs DSPP 4 88536515 88536520 + In_Frame_Del AGTGAT - OCCC_32 p.SD903del MUC19 12 40877650 40877679 + In_Frame_Del GACAGGGACAACTGAACCATTAGCTGGAGG - OCCC_32 p.TGTTEPLAGG3066del ARID3A 19 971949 971949 + In_Frame_Ins - GCA OCCC_32 p.555_556insA RPTN 1 152128233 152128268 + In_Frame_Del TCTGGCCTTGTCTGTCTGGCTGACCATAGTGGGAAC - OCCC_34 p.SSHYGQPDRQGQ436del ARID1A 1 27105826 27105826 + Frame_Shift_Del C - OCCC_35 p.P1813fs TCHH 1 152083743 152083781 + In_Frame_Del CTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTC - OCCC_35 p.EQEERRQQQLRRE638del RPTN 1 152127670 152127675 + In_Frame_Del TCCCTG - OCCC_35 p.QG634del OBSCN 1 228560130 228560171 + In_Frame_Del GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA - OCCC_35 p.SQSEEEEQEEARAE7218del DSPP 4 88537521 88537556 + In_Frame_Del ACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGCA - OCCC_35 p.SSDSSDSSDSSN1237del DSP 6 7542206 7542206 + In_Frame_Ins - CCGAGTCTGGCCCGGACCTGCGCTACGAGGTGACCAGGT OCCC_35 p.19_20insPSLARTCATR*PG DST 6 56417210 56417210 + Frame_Shift_Del A - OCCC_35 p.V5249fs AHNAK 11 62291447 62291461 + In_Frame_Del TTGGGCATTTTCATC - OCCC_35 p.3476_3481KMKMPK>K MUC19 12 40875869 40875898 + In_Frame_Del CAATCAGCTGGAGTCACAATGACATCTATC - OCCC_35 p.QSAGVTMTSI2472del MUC19 12 40877650 40877679 + In_Frame_Del GACAGGGACAACTGAACCATTAGCTGGAGG - OCCC_35 p.TGTTEPLAGG3066del MUC19 12 40878242 40878271 + In_Frame_Del GCTGGGGTGACAGGGACAACTGGACTATCT - OCCC_35 p.AGVTGTTGLS3263del KRT5 12 52908926 52908949 + In_Frame_Del CAAGACCTCCACCGAGGCCGCCGC - OCCC_35 p.GGGLGGGL517del SPTB 14 65236348 65236348 + Frame_Shift_Ins - CAAGCTCCAGGCAGGCACTGAAGTTCTTGCTACGGAGCTTGGCGAGT OCCC_35 p.G1966fs AHNAK2 14 105408153 105408182 + In_Frame_Del GTGCCCTTTGAGGCCGGCTACCTCGGGCAT - OCCC_35 p.MPEVAGLKGH4536del WWP2 16 69965477 69965478 + Frame_Shift_Del CC - OCCC_35 p.FQ529fs MINK1 17 4797305 4797337 + In_Frame_Del GTCAGCACCATGGTGGTCCACGACGTCGAGGAG - OCCC_35 p.VSTMVVHDVEE863del MINK1 17 4797342 4797368 + In_Frame_Del CCGGGACCCAGCCCCCATACGGGGGCG - OCCC_35 p.875_884TGTQPPYGGG>S ARID3A 19 968463 968465 + In_Frame_Del CAT - OCCC_35 p.I519del SPTBN4 19 41009746 41009747 + Frame_Shift_Del GG - OCCC_35 p.G458fs SPTBN4 19 41009747 41009747 + In_Frame_Ins - TTT OCCC_35 p.458_458G>VW VASP 19 46025639 46025674 + In_Frame_Del CCAGGACCTCCCCCTCCTCCAGGTCCCCCCCCACCC - OCCC_35 p.PGPPPPPGPPPP174del MAGEE1 X 75648778 75648813 + In_Frame_Del TGCCGCCCACCGCCTCTGAGGTACCGAGCACCTCCC - OCCC_35 p.PPTASEVPSTSL153del RPTN 1 152129116 152129151 + In_Frame_Del GTCTTGTCTCTCAGGCTGACCATGGTGGGAATCTCC - OCCC_03 p.GDSHHGQPERQD142del SPTA1 1 158641157 158641157 + Frame_Shift_Ins - AAGGCTTCCTCAAAGTCTTCATGCTTTGTCTTCATGCTTCTGAAGCCCTTCTTCAGAAGCATGAAGACTTT OCCC_03 p.F525fs HRNR 1 152191631 152191669 + In_Frame_Del CCTGAGCCAGACTCGTGTTGCCCAAAACCAGAAGCCTGG - OCCC_69 p.812_825GQASGFGQHESGSG>G HRNR 1 152192822 152192860 + In_Frame_Del TGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCTGTGT - OCCC_69 p.415_428QHSSGSGQSPGHGQ>Q HRNR 1 152193038 152193076 + In_Frame_Del CCTGAGCCAGACTCATGTTGCCCAAAGCCAGAAGTCTGG - OCCC_69 p.343_356GQTSGFGQHESGSG>G FLG 1 152281747 152281749 + In_Frame_Del TTC - OCCC_69 p.K1872del LRP1B 2 141771184 141771184 + Frame_Shift_Ins - GCAATGTCACCTCACTTGTTATCAAATCTAGTTGAGGTGACATTGCTGAGGCATGAAAGACCACCCCTATTTGG OCCC_69 p.L774fs DST 6 56469384 56469384 + Frame_Shift_Ins - CAATTCAGGAATCTGAACCTCCGCCTTGTCTCCAAGATCCCAAGAAAAGGAGGTTCAGATCCCAAGAAAAGGAGGTT OCCC_69 p.S3137fs MUC17 7 100677572 100677572 + In_Frame_Ins - CTGAAGCCACTTCATCTCCTACAACTGCTGAAGGTACCAGCAGTT OCCC_69 p.958_959insLKPLHLLQLLKVPAV PLEC 8 144992791 144992791 + In_Frame_Ins - GGAAGCCTGTGGCTGCCTGTGCCACAGGCTTCCTGCTGGACCCGGTGAAGGGGGAGC OCCC_69 p.3869_3870insRSPFTGSSRKPVAQAATGF PLEC 8 144993014 144993014 + Frame_Shift_Ins - GATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACCT OCCC_69 p.-3795fs AHNAK 11 62293497 62293497 + In_Frame_Ins - GACATCAATGTCAGCCTTGGGCAGGTTCACATTGATGTCTCAGGACCGAAAGTGGATGTTGAATGTCCCGAT OCCC_69 p.2797_2798insIGTFNIHFRS*DINVNLPKADIDV SPTBN2 11 66459096 66459096 + In_Frame_Ins - CCGGGAGAACTCTCGGAATTTGTCTCGGAGCATCTGCTTCCTCTACCAGATGCTCCGAGACAAATT OCCC_69 p.1741_1742insNLSRSIW*RKQMLRDKFREFSR SPTBN2 11 66481836 66481836 + In_Frame_Ins - CTTCTCCTTGTTGTCTTCTGTCTCCACACTGATGACAACAAGGAGAAGAAGTCAGCCAAGGATGCCCTG OCCC_69 p.175_176insQGILG*LLLLVVISVETEDNKEK MUC19 12 40876495 40876524 + In_Frame_Del AACTGGATCATCACCTGGAGTGACAGGGAC - OCCC_69 p.TGSSPGVTGT2691del MUC19 12 40877680 40877709 + In_Frame_Del GACAGGGACAACTGGAATATTAGCCGGGGT - OCCC_69 p.TGTTGILAGV3076del EVPL 17 74004643 74004643 + In_Frame_Ins - TGCGCTCCCTGTTGAGCATCTCCCACACGCGGGCCC OCCC_69 p.1547_1548insRARVWEMLNRER SPTBN4 19 41066181 41066181 + Frame_Shift_Ins - GCCTGTGAGGATGCCCGCCTGCATGTCAGCTCCACAGCCGACAT OCCC_69 p.-1930fs TCHH 1 152084176 152084193 + In_Frame_Del TGCTGCTCGCGCCTCTCC - OCCC_63 p.500_506QERREQQ>Q RPTN 1 152127299 152127340 + In_Frame_Del CTGTCTCGTCTCTGATGGCTCTGCTCATGTTCATGGGTTTGT - OCCC_63 p.745_759RQTHEHEQSHQRRDR>R RPTN 1 152129036 152129107 + In_Frame_Del GAATCTCTGTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGG - OCCC_63 p.156_180SHHGQSEKQDRDSHHSQPERQDRDS>S OBSCN 1 228560156 228560191 + In_Frame_Del AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC - OCCC_63 p.EARAESQSEEQQ7227del CELSR3 3 48677161 48677206 + Frame_Shift_Del GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT - OCCC_63 p.HTTATPSATASVLGPS3271fs SHROOM3 4 77662005 77662005 + In_Frame_Ins - CTCTCCAGCGAGCCGGGCCTGTCCCGCCACTCGGGCTCC OCCC_63 p.894_895insSPASRACPATRAP SPTBN2 11 66463902 66463903 + Frame_Shift_Del TT - OCCC_63 p.K1375fs MUC19 12 40878780 40878869 + In_Frame_Del CTGGGGTGACAGGGAAAACTGGACTATCTGCTGGAGTGACAGAGACAATTGGACTATCAGCTGAAGCGACAGGGACAATTGGATCATCAC - OCCC_63 p.GVTGKTGLSAGVTETIGLSAEATGTIGSSP3443del KRT5 12 52908926 52908949 + In_Frame_Del CAAGACCTCCACCGAGGCCGCCGC - OCCC_63 p.GGGLGGGL517del KRT1 12 53073827 53073853 + In_Frame_Del ACCACCACCAAAGCCACCACCACCATA - OCCC_63 p.YGGGGFGGG94del ERBB2 17 37866709 37866709 + Frame_Shift_Ins - GCCAGCTGTGTGACTGCCTGTCCCTGTGAGT OCCC_63 p.-293fs MAPK1 22 22123530 22123530 + Frame_Shift_Ins - CAAAAATTAGTTCTTTGAGCTAATTTTTGAAGAGACTG OCCC_63 p.E349fs AHNAK 11 62296259 62296259 + Frame_Shift_Del A - OCCC_67 p.V1877fs AHNAK2 14 105405032 105405032 + Frame_Shift_Ins - ACAGC OCCC_67 p.Q5586fs AHNAK2 14 105419006 105419020 + In_Frame_Del TGGGCATCTTGAAAC - OCCC_67 p.SFKMP923del SPTBN4 19 41074024 41074101 + In_Frame_Del GCGGCGGCCGGAGCGGCAGGAGTCAGCGGAGCACGAGGCGGCACACAGCCTTACCCTGGGCCGCTATGAGCAGATGGA - OCCC_67 p.RRPERQESAEHEAAHSLTLGRYEQME2265del KRT10 17 38975164 38975166 + In_Frame_Del GCC - OCCC_41 p.G541del HRNR 1 152187804 152187842 + In_Frame_Del AGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCGG - OCCC_17 p.SGRSSSSGQHGPG2088del LOR 1 153233825 153233923 + In_Frame_Del GGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGC - OCCC_17 p.GGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSS134del LRP1B 2 141055447 141055447 + Frame_Shift_Ins - CAGGTTCCTCCATTTTGACAAAAATGGAGGAACCTGCATTGTGA OCCC_17 p.-4299fs MUC4 3 195510219 195510266 + In_Frame_Del TGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGA - OCCC_17 p.SSTGDTTPLLVTETSS2729del DSPP 4 88535504 88535518 + In_Frame_Del AGTGACAGCAGTGAC - OCCC_17 p.SDSSD569del NEURL1B 5 172113743 172113743 + Frame_Shift_Ins - TCAG OCCC_17 p.P495fs DST 6 56481871 56481871 + Frame_Shift_Ins - CTTGTTAAGAGTTTTCTGAACTTCTTCAACT OCCC_17 p.F2132fs PLEC 8 144997814 144997843 + In_Frame_Del CCTCCGCCTCCTCAGCCGCCCGCCGGGCCG - OCCC_17 p.AARRAAEEAE2222del KRT1 12 53069244 53069303 + In_Frame_Del ACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACC - OCCC_17 p.GSYGSGGGGGGGRGSYGSGG537del MINK1 17 4797309 4797368 + In_Frame_Del GCACCATGGTGGTCCACGACGTCGAGGAGATCACCGGGACCCAGCCCCCATACGGGGGCG - OCCC_17 p.TMVVHDVEEITGTQPPYGGG865del SPTBN4 19 41018722 41018730 + In_Frame_Del GCGGGCGCA - OCCC_17 p.AGA679del SPTBN4 19 41018936 41018982 + Frame_Shift_Del GCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAGGCGGCG - OCCC_17 p.RAASARRRWQRLEEAA747fs LAMA5 20 60904886 60904886 + In_Frame_Ins - ACCGTGCGT OCCC_17 p.1355_1356insTHG RPTN 1 152129044 152129151 + In_Frame_Del GTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAATCTCTGTCTTGTCTCTCAGGCTGACCATGGTGGGAATCTCC - OCCC_18 p.GDSHHGQPERQDRDSHHGQSEKQDRDSHHSQPERQD142del LRP1B 2 141986949 141986949 + Frame_Shift_Ins - AACAATA OCCC_18 p.Y218fs LRP1B 2 141986951 141986951 + Frame_Shift_Ins - TGGTGCA OCCC_18 p.-217fs SHROOM3 4 77680731 77680731 + Frame_Shift_Ins - A OCCC_18 p.N1745fs DSPP 4 88535567 88535626 + In_Frame_Del AGTGACAGCAGTGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGACAGT - OCCC_18 p.SDSSDSSDSDSSDSSNSSDS585del PLEC 8 144996883 144996883 + Frame_Shift_Ins - AG OCCC_18 p.R2542fs AHNAK2 14 105416683 105416683 + Frame_Shift_Ins - TGAGG OCCC_18 p.K1702fs HRNR 1 152187854 152187931 + In_Frame_Del TGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC - OCCC_48 p.QGSGSGQSPGHGQRGSGSRQSPSYGR2058del MUC4 3 195508174 195508174 + In_Frame_Ins - GAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT OCCC_48 p.3425_3426insHVTSPSSASTGHATPL UNC13B 9 35236530 35236530 + Frame_Shift_Ins - CCATGGTGGGGACTGTGTGGATTGCGCTGAAGACTATTCTGACGAATAGTCTTCAGCGCAAT OCCC_48 p.T73fs SPTBN2 11 66472923 66472923 + In_Frame_Ins - TCGCAAGGTCTATACTCTGAGAAAGTCCCTCTCCTGTGACTT OCCC_48 p.607_608insESHRRGTFSEYRPC MAPK8IP2 22 51041768 51041768 + In_Frame_Ins - GAG OCCC_48 p.97_98insR RPTN 1 152127563 152127563 + Frame_Shift_Ins - AGAGACTGGCAATCATGCAGTA OCCC_66 p.P671fs CELSR3 3 48686212 48686223 + In_Frame_Del GGCCAGCAGGTG - OCCC_66 p.HLLA2236del ANK3 10 61828704 61828706 + In_Frame_Del TGG - OCCC_66 p.T3978del MUC19 12 40873080 40873109 + In_Frame_Del TATCAGGGACAACTGGACCATTAGCTGAAA - OCCC_66 p.SGTTGPLAEI1543del MUC19 12 40873358 40873387 + In_Frame_Del ACAACTGGACCATCAGCTGACGGGTCAGGA - OCCC_66 p.TTGPSADGSG1635del CTNNB1 3 41266973 41266973 + Frame_Shift_Ins - TGGGACCTTGCATAACCTTTCCCATCATCGTGATGGCCAGTAAGCCCTCACGATGA OCCC_19 p.A215fs MUC4 3 195514433 195514433 + Frame_Shift_Ins - GACGCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCA OCCC_19 p.G1340fs DSPP 4 88536764 88536781 + In_Frame_Del GATAGCAGTGACAGCAGT - OCCC_19 p.DSSDSS996del AHNAK 11 62287913 62287927 + In_Frame_Del TTGGGCATTTTCACT - OCCC_19 p.4654_4659KVKMPK>K KRT10 17 38978482 38978550 + In_Frame_Del CCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTC - OCCC_19 p.96_119GSYGGIFGGGSFGGGSFGGGSFGG>G SPTBN4 19 41040166 41040166 + In_Frame_Ins - CTCCTTCACATGGAGAGCCAGCTGCAAGACGTGGTCTCCTCCAGGGTCCACGTCTTGCAGCTGGCT OCCC_19 p.1426_1426L>LSFTWRASCKTWSPPGSTSCSWL MAGEE1 X 75649425 75649460 + In_Frame_Del GTGCCGCCCACCGCCTCTGATGGATCGGACACCTCC - OCCC_19 p.VPPTASDGSDTS368del OBSCN 1 228560130 228560171 + In_Frame_Del GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA - OCCC_51 p.SQSEEEEQEEARAE7218del LRP1B 2 141457914 141457914 + Frame_Shift_Del C - OCCC_51 p.R2235fs MUC4 3 195489005 195489067 + In_Frame_Del GAGGCGTGGAGGATGTTGGAGAGCGCGATCACCGAGACGGTGGCCCAGCCGTCGAAGCTGGCC - OCCC_51 p.565_586SASFDGWATVSVIALSNILHAS>S MSH3 5 79950724 79950724 + In_Frame_Ins - CAGCGC OCCC_51 p.59_60insQR MUC17 7 100681304 100681304 + Frame_Shift_Ins - CAACTTCTGAAGGTACCAGCATGCCAACCTT OCCC_51 p.T2203fs AHNAK 11 62286529 62286529 + Frame_Shift_Ins - GGTGCCTGGAGTTCACCCTCCAGTTTGGGGCTAGGGAGAG OCCC_51 p.-5120fs MUC19 12 40873080 40873109 + In_Frame_Del TATCAGGGACAACTGGACCATTAGCTGAAA - OCCC_51 p.SGTTGPLAEI1543del MUC19 12 40878944 40878973 + In_Frame_Del ACAACTGGATTGTCAACTGAAGTGACAGGA - OCCC_51 p.TTGLSTEVTG3497del AHNAK2 14 105415500 105415520 + In_Frame_Del GGGGCCCTTGATGTCCACCTG - OCCC_51 p.QVDIKGP2090del CDK12 17 37627658 37627711 + In_Frame_Del ACCCCTCCACCTCTTCCCACAATTGCTTCTCCCCCACCCCCTCTACCAACTACT - OCCC_51 p.TPPPLPTIASPPPPLPTT525del ERBB2 17 37881624 37881624 + Frame_Shift_Ins - AGAA OCCC_51 p.F899fs EVPL 17 74010547 74010551 + Frame_Shift_Del TCGCT - OCCC_51 p.SD777fs SPTBN4 19 41018722 41018730 + In_Frame_Del GCGGGCGCA - OCCC_51 p.AGA679del MAGEE1 X 75648566 75648601 + In_Frame_Del GCCCACCATCTCTGAGGCCTCAAGCGCCTCCGGGCA - OCCC_51 p.PTISEASSASGQ82del TCHH 1 152080326 152080397 + In_Frame_Del GCGCAGCTGCTGTTCCTCCCTCTCCTGGCGGAGCTGTTCCTCCTCGCGGAATTTTCTGTCGCGCTCCTGGCG - OCCC_33 p.RQERDRKFREEEQLRQEREEQQLR1766del HRNR 1 152192096 152192096 + Frame_Shift_Ins - TGGAA OCCC_33 p.G670fs FLG 1 152276467 152276467 + In_Frame_Ins - GGA OCCC_33 p.3631_3632insL OBSCN 1 228521376 228521376 + Frame_Shift_Ins - CCCTGGAGATCATCTCCGTCACCCGGGAGGACTCTGGCCAGAGTCCT OCCC_33 p.T5317fs CELSR3 3 48681045 48681060 + Frame_Shift_Del GCCAGGAGCCCAAAGA - OCCC_33 p.LFGLLA2739fs CELSR3 3 48685368 48685369 + Frame_Shift_Del GC - OCCC_33 p.R2345fs DSPP 4 88535504 88535518 + In_Frame_Del AGTGACAGCAGTGAC - OCCC_33 p.SDSSD569del PLEC 8 144997814 144997843 + In_Frame_Del CCTCCGCCTCCTCAGCCGCCCGCCGGGCCG - OCCC_33 p.AARRAAEEAE2222del KRT10 17 38978482 38978496 + In_Frame_Del CCACCAAAGCTGCCC - OCCC_33 p.114_119GGSFGG>G EVPL 17 74005040 74005080 + Frame_Shift_Del CGCCGGCCCGCAGCTGCTGCACCTCAAGCTCTAGCTGGCGC - OCCC_33 p.RQLELEVQQLRAGV1403fs HELZ2 20 62195541 62195541 + In_Frame_Ins - ACTCGCTGCCCACCAGGAACTCAGCGAGTGCACGCGGAGTTCCTGGTGGGCAGCGAGTGCACGCGG OCCC_33 p.1544_1545insSACTRCPPGTPRALAEFLVGSE ARID1A 1 27087533 27087533 + Frame_Shift_Del C - OCCC_06 p.P703fs TCHH 1 152080564 152080564 + In_Frame_Ins - GGAATTTTCTCTCTCGTTCCTGACGGCGGAGCTGCTGTTCCTCTTCGC OCCC_06 p.1709_1710insREEEQQLRRQERERKF DSPP 4 88536046 88536046 + In_Frame_Ins - GATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGC OCCC_06 p.745_745D>EIAVTAATAVTVA PLEC 8 144997640 144997696 + In_Frame_Del CCGCCTGTGCCCGCCGCGCCGCCTCTTGCTCGGCCTCCTTGCGCAGCTTCTCTGCAG - OCCC_06 p.AAEKLRKEAEQEAARRAQA2271del MUC19 12 40877181 40877181 + In_Frame_Ins - AACTAGACCATCAGCTGGGGTAACAGGGACAACAGGACTATCAGCTGAAGTGACAGAGAT OCCC_06 p.2909_2909T>KLDHQLG*QGQQDYQLK*QRS MUC19 12 40878586 40878586 + In_Frame_Ins - ACTGGACTATCAGCTGAGGTGACAGGGACA OCCC_06 p.3378_3379insLDYQLR*QGH KRT1 12 53073844 53073844 + In_Frame_Ins - ACCACCATAACCACCACCAAAGCCACT OCCC_06 p.96_97insSGFGGGYGG ARID1A 1 27087544 27087544 + Frame_Shift_Ins - A OCCC_59 p.A707fs SPTA1 1 158617450 158617450 + In_Frame_Ins - CTCAGTGGCATCTGGATGGGACTCACTGAGCCG OCCC_59 p.1258_1259insRLSESHPDATE NEURL1B 5 172110551 172110551 + Frame_Shift_Ins - CCAGCTTGGCCACCACCTGGTTGTT OCCC_59 p.-236fs DSP 6 7576632 7576633 + Frame_Shift_Del AG - OCCC_59 p.E913fs PLEC 8 144999765 144999765 + Frame_Shift_Ins - ATCGAGGAGGAGA OCCC_59 p.E1581fs XPO6 16 28167475 28167475 + Frame_Shift_Ins - ACCAAGGATAACAA OCCC_59 p.Q339fs ARID1A 1 27100182 27100187 + In_Frame_Del GCAGCA - OCCC_44 p.QQ1333del ARID1A 1 27101132 27101132 + Frame_Shift_Del G - OCCC_44 p.A1472fs OBSCN 1 228403319 228403319 + Frame_Shift_Ins - GAGGTCACTTTCTCCGTGGACCTCCCGCTGAGGCCACCGTGAGGTCCACCGT OCCC_44 p.-629fs OBSCN 1 228404312 228404312 + Frame_Shift_Ins - CTCCTTGTGCGAGATGTGTCCCGGGCCACAT OCCC_44 p.-763fs OBSCN 1 228505627 228505627 + Frame_Shift_Ins - GCCCCTGAGAGCCGGCAGGTGGCAGCTGGTGACATCTTCACCAGCT OCCC_44 p.A4629fs SHROOM3 4 77675891 77675891 + Frame_Shift_Ins - GGGTCTCGCTGCCTCAGTGGCCACCTCCTTCTCGAGCAAAGTGGGT OCCC_44 p.R1419fs MUC17 7 100678734 100678735 + Frame_Shift_Del CC - OCCC_44 p.T1347fs SPTBN2 11 66463844 66463844 + Frame_Shift_Ins - GCACAGCAGCTCTGAGCTGTTTGCCCAGAGCTGCTGTGCCCTGGAGA OCCC_44 p.-1394fs PPP2R1A 19 52719102 52719102 + Frame_Shift_Ins - CTGTGAGGCCGAGGTGAGGGCCGCAGCCTCCCACAAGGAGG OCCC_44 p.D293fs DSPP 4 88535833 88535850 + In_Frame_Del TAGCAGTGACAGCAGCAG - OCCC_15 p.SSDSSS674del DMRTB1 1 53925474 53925474 + Frame_Shift_Ins - CTCG OCCC_49 p.-117fs DSPP 4 88536774 88536818 + In_Frame_Del ACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGTGATAGCAGCA - OCCC_49 p.SSDSSDSSDSSDSSN1003del UNC13B 9 35397682 35397682 + Frame_Shift_Ins - CCAGCCTATTGCACAAAGGAGAAACTGGTAGGTTCAGGCCCTGGGACTA OCCC_49 p.-1161fs AHNAK 11 62290020 62290020 + In_Frame_Ins - CAGGTTCACATCCACTTCTGGACCTTCTCCTTAAGTGGATGTGAACCTGCCCAAGGCTGACCTTGACGT OCCC_49 p.3956_3957insTSRSALGRFTST*GEGPEVDVNL LAMA5 20 60922041 60922052 + In_Frame_Del CGCAGGTGCCCC - OCCC_49 p.GGTC330del ARID1A 1 27105726 27105726 + Frame_Shift_Del G - OCCC_39 p.E1780fs SPTA1 1 158654960 158654960 + In_Frame_Ins - CTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGCTTGAGGATTCCTATCACTTACAAGTTTT OCCC_39 p.67_68insKTCK**ESSSYHLQVFKRDADDLGK RPTN 1 152127835 152127835 + In_Frame_Ins - CTCTGGCCTTGTCTGTCTGTCTGACCATAATGATAG OCCC_62 p.580_580S>SYHYGQTDRQGQS DSPP 4 88535772 88535772 + In_Frame_Ins - CAGTGATAGCAGCGACAGCAGCAATAGCAGTAACAGCAGTGATAGTAGTGACAG OCCC_62 p.653_653N>TVIAATAAIAVTAVIVVTD ANK3 10 61828704 61828706 + In_Frame_Del TGG - OCCC_62 p.T3978del ANK3 10 61829748 61829748 + Frame_Shift_Ins - TTGGAGCCTCTCTTCAACAAAATCCCTCTTG OCCC_62 p.F3631fs MINK1 17 4795793 4795793 + Frame_Shift_Ins - CCCAACGCCTCTAGGTAATAGAGTTGTCC OCCC_62 p.-729fs EVPL 17 74005156 74005170 + In_Frame_Del ACCACCACCTCCTGC - OCCC_62 p.1372_1377VQEVVV>V MUC4 3 195513398 195513398 + In_Frame_Ins - GGTGACAGGAAGAGGGGTGGCGTGAGCTGTGGATGCTGAGGAAGTGCT OCCC_31 p.1684_1685insSTSSASTAHATPLPVT DSPP 4 88534443 88534444 + Frame_Shift_Del GG - OCCC_31 p.G369fs DST 6 56434706 56434706 + Frame_Shift_Ins - CAATGGGAACTTTTTTTGTTGTTTCTTTTATCCATGACTT OCCC_31 p.V4398fs KRT5 12 52908978 52908983 + In_Frame_Del GCCACT - OCCC_31 p.SG506del ARID1A 1 27106336 27106337 + Frame_Shift_Del TG - OCCC_11 p.C1983fs FLG2 1 152326379 152326379 + Frame_Shift_Ins - TGTGTGAATGTGTTCTGAATGTC OCCC_11 p.Q1295fs OBSCN 1 228528930 228528930 + Frame_Shift_Ins - TACGTGTTCCGGAACATGATGAAGGTCTGCAGGCTCTGGAACACGTAGCTGACGG OCCC_11 p.-5945fs MUC4 3 195475790 195475791 + Frame_Shift_Del GG - OCCC_11 p.P1103fs SHROOM3 4 77476849 77476849 + In_Frame_Ins - GCTCCAGAAAGGAGGCAGTTTCCCTGGGTCTTGTAGGATCCTTTCACCAGGGAAACT OCCC_11 p.85_86insAPERRQFPWVL*DPFTRET DST 6 56496075 56496075 + Frame_Shift_Del G - OCCC_11 p.S1148fs AHNAK 11 62293469 62293469 + Frame_Shift_Ins - GACATTCAACATCCACTTTCGGTCCTGAGACATCAATGTCAGCCTTGAACCTGCCCAAGGCT OCCC_11 p.P2807fs MUC19 12 40852569 40852569 + In_Frame_Ins - AGGTCAGTATATTAATTCCTGGTTTTACATGTTAAATAAAAACCAGGAATTAATATACTGACCTGTAGAAAA OCCC_11 p.1114_1115insKVSILIPGFTC*IKTRN*YTDL*K SPTB 14 65270403 65270403 + Frame_Shift_Ins - ACATTGTAGA OCCC_11 p.-132fs AHNAK2 14 105407516 105407517 + Frame_Shift_Del GC - OCCC_11 p.MQ4757fs MINK1 17 4800542 4800542 + Frame_Shift_Ins - CTTCATGACTCTGGGGGCAGCAGCCAAGTTTT OCCC_11 p.Y1320fs ERBB2 17 37866644 37866644 + Frame_Shift_Ins - CAGTTGCTACCCCTCTGGATCTAACATGACTTTTTTTTTTTTTT OCCC_11 p.L271fs ARID1A 1 27101161 27101161 + Frame_Shift_Del G - OCCC_07 p.M1481fs TCHH 1 152084549 152084549 + In_Frame_Ins - CTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTC OCCC_07 p.381_382insEEERREQQLRREQ DSPP 4 88536521 88536526 + In_Frame_Del AGTGAC - OCCC_07 p.SD903del ARID1A 1 27106630 27106630 + Frame_Shift_Ins - G OCCC_20 p.C2081fs TCHH 1 152084210 152084210 + In_Frame_Ins - CTGCTGCTCGCGCCT OCCC_20 p.494_495insRREQQ FLG2 1 152326888 152326926 + In_Frame_Del GACTGACCTGAGCCCGATCCATATTGGCCAAAGCCAGAG - OCCC_20 p.1112_1125SSGFGQYGSGSGQS>S FLG2 1 152331310 152331313 + Frame_Shift_Del TTTG - OCCC_20 p.YK16fs OBSCN 1 228479814 228479814 + Frame_Shift_Ins - TG OCCC_20 p.L3519fs CTNNB1 3 41280738 41280776 + In_Frame_Del GATGGGCTGCCAGATCTGGGGCATGCCCAGGACCTCATG - OCCC_20 p.DGLPDLGHAQDLM751del SHROOM3 4 77677692 77677698 + Frame_Shift_Del ACTCCAA - OCCC_20 p.RLQ1600fs PLEC 8 144999805 144999805 + In_Frame_Ins - CCTCCGAGCTCTGCCGCAGCTGCTGCAGCT OCCC_20 p.1567_1568insELQQLRQSSE MUC19 12 40877380 40877409 + In_Frame_Del AGTGACAGGGACAACTGGACTGTCAACTGA - OCCC_20 p.VTGTTGLSTE2976del MUC19 12 40877680 40877709 + In_Frame_Del GACAGGGACAACTGGAATATTAGCCGGGGT - OCCC_20 p.TGTTGILAGV3076del MUC19 12 40877853 40877882 + In_Frame_Del CTGGAGTGACGGGGACAACTGGACTATCAC - OCCC_20 p.GVTGTTGLSP3134del MUC19 12 40878604 40878633 + In_Frame_Del GGTGACAGGGACAACTGGACTATCAGTTGG - OCCC_20 p.VTGTTGLSVG3384del AHNAK2 14 105411949 105411949 + Frame_Shift_Ins - A OCCC_20 p.A3280fs MINK1 17 4792947 4793018 + In_Frame_Del GCGGCGGGAGCGGGAGCAGCGGAAGCTGCAGGAGAAGGAGCAGCAGCGGCGGCTGGAGGACATGCAGGCTCT - OCCC_20 p.RREREQRKLQEKEQQRRLEDMQAL413del KRT10 17 38975137 38975137 + In_Frame_Ins - CCGCCGCCGTAT OCCC_20 p.550_550G>GYGGG RPTN 1 152128355 152128390 + In_Frame_Del TCTGTCTGACCATAGTGAGAACTTTGGTCTTGTCTG - OCCC_14 p.DRQDQSSHYGQT395del DSPP 4 88535459 88535509 + In_Frame_Del AGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGATAGTAGTGAC - OCCC_14 p.SSDSDSSDSSNSSDSSD549del DSPP 4 88536515 88536520 + In_Frame_Del AGTGAT - OCCC_14 p.SD903del UNC13B 9 35310668 35310668 + In_Frame_Ins - GCAGAGAAGGAGGCAGCATGTGAACCCAAGGAGATGAAAGCT OCCC_14 p.323_324insQRRRQHVNPRR*KL TCHH 1 152084406 152084477 + In_Frame_Del CTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTG - OCCC_43 p.QLRREQQLRREQQLRREQQLRREQ406del SPTA1 1 158639269 158639270 + Frame_Shift_Del AC - OCCC_43 p.Y588fs OBSCN 1 228505740 228505740 + Frame_Shift_Ins - TGGGAATGGAGCGCATCCAGCCCGT OCCC_43 p.G4666fs CELSR3 3 48694195 48694196 + Frame_Shift_Del GC - OCCC_43 p.R1445fs DSP 6 7581743 7581743 + Frame_Shift_Ins - AG OCCC_43 p.Q1774fs PLEC 8 144998456 144998488 + In_Frame_Del CCAGCCGCCGCCGCTGGAAGGCCTCGTCCTCCG - OCCC_43 p.AEDEAFQRRRL2007del PLEC 8 145003857 145003857 + In_Frame_Ins - GAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGCT OCCC_43 p.1097_1097S>SAEDRLMAEREYGS UNC13B 9 35375191 35375191 + Frame_Shift_Del A - OCCC_43 p.E455fs AHNAK 11 62291447 62291461 + In_Frame_Del TTGGGCATTTTCATC - OCCC_43 p.3476_3481KMKMPK>K AHNAK2 14 105408570 105408571 + Frame_Shift_Del GG - OCCC_43 p.P4406fs EVPL 17 74023206 74023232 + In_Frame_Del TTGGGGGACCCCTTGGCGGGGGAGCCC - OCCC_43 p.16_25KGSPAKGSPK>K HELZ2 20 62196712 62196712 + Frame_Shift_Ins - GGGGCCCGAGGAGGCATCGTCCAGCGGGATGGCTGACGCCTCCTCGGGCCCCATCCAGGTCA OCCC_43 p.I1155fs HELZ2 20 62196752 62196752 + Frame_Shift_Ins - TCCT OCCC_43 p.-1141fs MAGEE1 X 75649528 75649528 + In_Frame_Ins - CTCCGTGCTGCCTAACCCTGGTGAGGGCCCTCAATGTGCTCGGGCCCT OCCC_43 p.402_402S>TPCCLTLVRALNVLGPC TCHH 1 152080254 152080325 + In_Frame_Del GCGCAGCTGCTGTTCTTCCCTCTCCTGGCGTAGCTGTTCCTCCTCGCGGAATTTTCTGTCAGACTCTTGGCT - OCCC_46 p.SQESDRKFREEEQLRQEREEQQLR1790del TCHH 1 152082863 152082883 + In_Frame_Del GCAGCTGCTCTTCCTCCTGCT - OCCC_46 p.QQEEEQL937del HRNR 1 152191328 152191366 + In_Frame_Del GAGCCAGACCCATGTCGGCCACTGCTGGAAGACCGACCG - OCCC_46 p.913_926SGRSSSSGRHGSGS>S FLG2 1 152326621 152326659 + In_Frame_Del TGACCTGAGCCTGAACCATATTGGCCAAATCCAGTGGAC - OCCC_46 p.1201_1214QSTGFGQYGSGSGQ>Q FLG2 1 152327758 152327796 + In_Frame_Del TGTCCAAAGCCAGAGGATTGTCCTGAGCCAGACCCATGT - OCCC_46 p.822_835QHGSGSGQSSGFGQ>Q FLG2 1 152327846 152327848 + In_Frame_Del CAG - OCCC_46 p.805_806TG>S PIK3CA 3 178922313 178922315 + In_Frame_Del ACC - OCCC_46 p.H362del MUC4 3 195538627 195538638 + In_Frame_Del AGGCAGAGACAC - OCCC_46 p.17_21LCLCL>L DST 6 56357771 56357781 + Frame_Shift_Del GAGACTTGGCC - OCCC_46 p.RPSL6514fs AHNAK 11 62289760 62289760 + In_Frame_Ins - TCCACTTTGGGGCCCTTGATGTCAACTTCAGGGGCCTTTAGATCACCT OCCC_46 p.4042_4043insEGDLKAPEVDIKGPKV MUC19 12 40877680 40877709 + In_Frame_Del GACAGGGACAACTGGAATATTAGCCGGGGT - OCCC_46 p.TGTTGILAGV3076del KRT5 12 52908926 52908949 + In_Frame_Del CAAGACCTCCACCGAGGCCGCCGC - OCCC_46 p.GGGLGGGL517del SPTB 14 65216761 65216796 + In_Frame_Del CAGGGCCAGGGGTTCCTCCCCATGGTAGGGCATCCC - OCCC_46 p.GMPYHGEEPLAL2227del WWP2 16 69874149 69874149 + In_Frame_Ins - CAGTGCCCTGACAGATGGTGAGTGCCGCCCTGCTCCTCAGTCCTGAGGAGCAGGGCGGCACTCACCATCTGT OCCC_46 p.154_154G>AVP*QMVSAALLLSPEEQGGTHHLC ERBB2 17 37884039 37884040 + Frame_Shift_Del CA - OCCC_46 p.K1171fs LAMA5 20 60898688 60898689 + Frame_Shift_Del CC - OCCC_46 p.G1963fs LAMA5 20 60902992 60902995 + Frame_Shift_Del GGGC - OCCC_46 p.RP1575fs MAGEE1 X 75649234 75649341 + In_Frame_Del TGAGCACCTCCGTGCAGCCCACTGCTGGTGAGGGATCGAGCACCTCCGTGCCGCCCACCCCTGGTGGGGGACTGAGCACCTCCGTGCCGCCCACCGCCACTGAGGAGT - OCCC_46 p.304_340LSTSVQPTAGEGSSTSVPPTPGGGLSTSVPPTATEEL>L TCHH 1 152084549 152084549 + In_Frame_Ins - CTGCTCGCGCCTCTCCTCCTC OCCC_21 p.381_382insEEERREQ OBSCN 1 228560130 228560171 + In_Frame_Del GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA - OCCC_21 p.SQSEEEEQEEARAE7218del EVPL 17 74004871 74004871 + Frame_Shift_Ins - GGTCCTTCTCCAGCTTGACCACTTCCTCCATGATGATCTTCTCCCACGGTGCAGGAGAAGATCATCATGGAGGAAGT OCCC_21 p.P1472fs ARID1A 1 27106589 27106589 + Frame_Shift_Ins - C OCCC_53 p.I2067fs TCHH 1 152080606 152080606 + In_Frame_Ins - CCC OCCC_53 p.1695_1696insG TCHH 1 152084176 152084193 + In_Frame_Del TGCTGCTCGCGCCTCTCC - OCCC_53 p.500_506QERREQQ>Q HRNR 1 152188530 152188530 + In_Frame_Ins - GCG OCCC_53 p.1858_1859insR FLG2 1 152328664 152328702 + In_Frame_Del TGTCCAAAACCAGAGGATTGTCCTGAGACAGACCCATGC - OCCC_53 p.520_533QHGSVSGQSSGFGQ>Q OBSCN 1 228444399 228444443 + In_Frame_Del CAGGCCCAGGCGGGGGCCAGCACCACACTCAGCTGCGAGGTGGCT - OCCC_53 p.QAQAGASTTLSCEVA1453del OBSCN 1 228562291 228562291 + Frame_Shift_Ins - C OCCC_53 p.A7501fs DSP 6 7542183 7542183 + Frame_Shift_Ins - CACTCTGGGCCGCATGATCCGCGCCGAGTCTGGCCCGGAT OCCC_53 p.N12fs ANK3 10 62023687 62023687 + Frame_Shift_Ins - GCACTTTTCCTTTGGTGTCATTCAAAGGAAAAGTGCGTCTCCCA OCCC_53 p.R202fs AHNAK 11 62293578 62293578 + Frame_Shift_Del T - OCCC_53 p.M2771fs MUC19 12 40876788 40876817 + In_Frame_Del GGACAACTGGACTATCACCTGGAGTGACAA - OCCC_53 p.TTGLSPGVTR2779del MUC19 12 40877680 40877709 + In_Frame_Del GACAGGGACAACTGGAATATTAGCCGGGGT - OCCC_53 p.TGTTGILAGV3076del MUC19 12 40878635 40878664 + In_Frame_Del GTGACAGGGATAGCTGGACTCTCAGCTGGC - OCCC_53 p.VTGIAGLSAG3394del AHNAK2 14 105411019 105411019 + Frame_Shift_Del G - OCCC_53 p.A3590fs MINK1 17 4789807 4789848 + In_Frame_Del CCCACGGAGCAGCTACTGAAGTTTCCCTTCATCCGGGACCAG - OCCC_53 p.PTEQLLKFPFIRDQ279del EVPL 17 74023206 74023232 + In_Frame_Del TTGGGGGACCCCTTGGCGGGGGAGCCC - OCCC_53 p.16_25KGSPAKGSPK>K LAMA5 20 60897166 60897166 + Frame_Shift_Ins - G OCCC_53 p.P2135fs ARID1A 1 27023116 27023116 + Frame_Shift_Del G - OCCC_26 p.Q74fs HRNR 1 152192595 152192595 + Frame_Shift_Ins - CCTAGATGACTGAACAAACCTGAGCTAGATCCGTGTTGTTCACT OCCC_26 p.-503fs FLG2 1 152324722 152324722 + Frame_Shift_Ins - TAGTTCCATGTCTCTCGTCAACTATGGATTCTGACTCTCCAGGCTGGATCTCAACATGGAGAGTCAGAATCCA OCCC_26 p.T1847fs DSPP 4 88536737 88536772 + In_Frame_Del GACAGCAGTGACAGCAGCAACAGCAGCGATAGCAGT - OCCC_26 p.DSSDSSNSSDSS975del CDK12 17 37627658 37627711 + In_Frame_Del ACCCCTCCACCTCTTCCCACAATTGCTTCTCCCCCACCCCCTCTACCAACTACT - OCCC_26 p.TPPPLPTIASPPPPLPTT525del HELZ2 20 62196806 62196806 + In_Frame_Ins - CGCAGCAGC OCCC_26 p.1123_1123H>QLLR HRNR 1 152193038 152193076 + In_Frame_Del CCTGAGCCAGACTCATGTTGCCCAAAGCCAGAAGTCTGG - OCCC_27 p.343_356GQTSGFGQHESGSG>G CELSR3 3 48693701 48693701 + Frame_Shift_Ins - GCGGCGCCTT OCCC_27 p.R1499fs MAPK8IP2 22 51042892 51042892 + Frame_Shift_Ins - ACAC OCCC_27 p.G123fs MAGEE1 X 75648768 75648803 + In_Frame_Del AGCACCTCCGTGCCGCCCACCGCCTCTGAGGTACCG - OCCC_27 p.STSVPPTASEVP149del MSH3 5 79950724 79950724 + In_Frame_Ins - CAGCGC OCCC_05 p.59_60insQR AHNAK 11 62300860 62300860 + Frame_Shift_Ins - ACTAT OCCC_05 p.-343fs AHNAK 11 62300862 62300862 + Frame_Shift_Ins - AA OCCC_05 p.G343fs MAPK8IP2 22 51042919 51042937 + Frame_Shift_Del GAGGCGGCCGCGGGGCCCG - OCCC_05 p.EAAAGPG132fs TCHH 1 152082863 152082883 + In_Frame_Del GCAGCTGCTCTTCCTCCTGCT - OCCC_29 p.QQEEEQL937del TCHH 1 152083645 152083665 + In_Frame_Del TGCTCGCGCCTCTCTTCCTCA - OCCC_29 p.HEEERRE676del HRNR 1 152190899 152190899 + Frame_Shift_Del C - OCCC_29 p.S1070fs SPTBN2 11 66463850 66463850 + Frame_Shift_Ins - CAGCTCTGGGCAAACAGCT OCCC_29 p.C1392fs WWP2 16 69965462 69965462 + In_Frame_Ins - ATC OCCC_29 p.525_525F>LS MINK1 17 4797305 4797337 + In_Frame_Del GTCAGCACCATGGTGGTCCACGACGTCGAGGAG - OCCC_29 p.VSTMVVHDVEE863del MINK1 17 4797342 4797368 + In_Frame_Del CCGGGACCCAGCCCCCATACGGGGGCG - OCCC_29 p.875_884TGTQPPYGGG>S EVPL 17 74005040 74005080 + Frame_Shift_Del CGCCGGCCCGCAGCTGCTGCACCTCAAGCTCTAGCTGGCGC - OCCC_29 p.RQLELEVQQLRAGV1403fs EYA2 20 45717929 45717929 + In_Frame_Ins - CATCTCAAAAAAAAAAAAAAA OCCC_29 p.238_238T>TSQKKKKT TCHH 1 152080546 152080593 + In_Frame_Del AGCTGCTGTTCCTCCTGGAGGAATTTTCTCTCTCGTTCCTGACGGCGG - OCCC_64 p.1700_1716LRRQERERKFLQEEQQL>L TCHH 1 152082863 152082883 + In_Frame_Del GCAGCTGCTCTTCCTCCTGCT - OCCC_64 p.QQEEEQL937del TCHH 1 152083757 152083795 + In_Frame_Del GCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCA - OCCC_64 p.LLKSEEQEERRQQ633del FLG2 1 152328434 152328472 + In_Frame_Del CATGTTGTCCAAAGCCAGAGGATTGTCCTGAGCCAGACC - OCCC_64 p.GSGSGQSSGFGQH597del AHNAK2 14 105408026 105408027 + Frame_Shift_Del CC - OCCC_64 p.E4588fs RPTN 1 152127299 152127340 + In_Frame_Del CTGTCTCGTCTCTGATGGCTCTGCTCATGTTCATGGGTTTGT - OCCC_60 p.745_759RQTHEHEQSHQRRDR>R RPTN 1 152129095 152129130 + In_Frame_Del CTGACCATGGTGGGAATCTCTGTCTTGTCTCTCAGG - OCCC_60 p.PERQDRDSHHGQ149del MSH3 5 79950700 79950717 + In_Frame_Del GCAGCGGCTGCAGCGGCC - OCCC_60 p.AAAAAA52del DST 6 56485271 56485287 + Frame_Shift_Del TATCTTCTGCAGAGAGA - OCCC_60 p.ISLQKI1182fs AHNAK 11 62298941 62298941 + Frame_Shift_Ins - CTCCAGGTGTGTGTGTGTG OCCC_60 p.S983fs KRT5 12 52908926 52908949 + In_Frame_Del CAAGACCTCCACCGAGGCCGCCGC - OCCC_60 p.GGGLGGGL517del CASKIN1 16 2239304 2239304 + In_Frame_Ins - CTAATTTTAATTTTT OCCC_60 p.140_141insKN*N* KRT10 17 38975103 38975103 + In_Frame_Ins - GCT OCCC_60 p.562_562S>SS PPP2R1A 19 52724342 52724342 + Frame_Shift_Ins - ACCCCAACTACCTGCACCGCATGACT OCCC_60 p.D492fs FLG 1 152281412 152281413 + Frame_Shift_Del AC - OCCC_57 p.ES1983fs LOR 1 153233699 153233701 + In_Frame_Del GGA - OCCC_57 p.G95del SPTA1 1 158632528 158632528 + Frame_Shift_Ins - GATCCAGGCCTCCTCATCCTCTGTGTCTCTACAAATCAGAGGATGAGGAGGCCTGGATCCAAGAGACTGAACCCTCA OCCC_57 p.Q810fs MUC4 3 195507226 195507226 + Frame_Shift_Ins - CCTGTGGATACTGAGGAAG OCCC_57 p.V3742fs AHNAK 11 62288844 62288844 + Frame_Shift_Ins - TG OCCC_57 p.G4349fs ERBB2 17 37881624 37881624 + Frame_Shift_Ins - AGAA OCCC_57 p.F899fs ARID1A 1 27094341 27094341 + Frame_Shift_Ins - A OCCC_13 p.E1017fs TCHH 1 152081378 152081378 + In_Frame_Ins - CTGCTGTTCCTCTTCACGGAATTTTCTGTCACGCTCTTGGCGGCTCAG OCCC_13 p.1438_1439insLSRQERDRKFREEEQQ TCHH 1 152081530 152081530 + In_Frame_Ins - GTTCCTGGCGGCGCAGCCGCTGTTCCTCCTCGAGGAATTTTCTCCCTT OCCC_13 p.1387_1388insQGRKFLEEEQRLRRQE MUC4 3 195507241 195507241 + In_Frame_Ins - CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATA OCCC_13 p.3736_3737insVSTGHVTPLHVTSPSS MUC19 12 40877361 40877361 + In_Frame_Ins - AACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCAACTGAAGTGACAGGGAC OCCC_13 p.2969_2969I>KLDYQLE*QGQLDCQLK*QGL MUC19 12 40878531 40878531 + In_Frame_Ins - TGGACTATCAGCTGGAGTGACAGGGACAAA OCCC_13 p.3358_3359insMDYQLE*QGQ XPO6 16 28118877 28118877 + Frame_Shift_Ins - CTTCGGGTGGGGTGGTGTGTGTGTGTGTGTGTGT OCCC_13 p.-821fs ARID1A 1 27107135 27107136 + Frame_Shift_Del CA - OCCC_56 p.S2249fs HRNR 1 152185812 152185812 + Frame_Shift_Ins - AG OCCC_56 p.G2765fs MAPK8IP2 22 51042308 51042308 + In_Frame_Ins - GCGGGGCGCAGTCGCCAGTGCGCCCGGGTTGCGACT OCCC_56 p.193_194insAGRSRQCARVAT HRNR 1 152187559 152187559 + In_Frame_Ins - CTAGGA OCCC_09 p.2182_2182S>SPS MUC4 3 195515915 195515915 + Frame_Shift_Ins - AT OCCC_09 p.E846fs TCHH 1 152083803 152083844 + In_Frame_Del GCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTC - OCCC_36 p.EQRLKREEPEEERR617del TCHH 1 152083909 152083977 + In_Frame_Del TCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCC - OCCC_36 p.572_595EERRDQLLKREEERRQQRLKREQE>E RPTN 1 152127241 152127282 + In_Frame_Del GTCTTCATGGGTTTGCCTGTCTCGTCTCTGACGGTTCTGCTT - OCCC_36 p.KQNRQRRDRQTHED765del OBSCN 1 228444409 228444453 + In_Frame_Del CGGGGGCCAGCACCACACTCAGCTGCGAGGTGGCTCAGGCCCAGA - OCCC_36 p.GASTTLSCEVAQAQT1457del CELSR3 3 48677161 48677206 + Frame_Shift_Del GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT - OCCC_36 p.HTTATPSATASVLGPS3271fs SHROOM3 4 77675655 77675655 + Frame_Shift_Ins - AGGGCTGGTCACAGACACC OCCC_36 p.-1340fs DSPP 4 88536230 88536238 + In_Frame_Del AGCAGTGAT - OCCC_36 p.SSD815del DST 6 56510688 56510688 + Frame_Shift_Ins - TC OCCC_36 p.K374fs DST 6 56765382 56765382 + In_Frame_Ins - CTCGTCTTCTAAGATGCCGAGGGCTTGCTCAGGGATTCAGAGCAAGCC OCCC_36 p.84_85insGLALNP*ASPRHLRRR PTPRN2 7 157449106 157449159 + In_Frame_Del GGATGAGGCGCTGCTGCGTGCGGAGGGGCTGGGGATCGGCCCGTCGCTGAACTG - OCCC_36 p.QFSDGPIPSPSARSSASS696del KRTAP5-2 11 1619347 1619388 + In_Frame_Del CAGCCCCCACAGCCAGAGCCACAGCCCCCACGGCCGGAGCCA - OCCC_36 p.31_45CGSGRGGCGSGCGGC>C MAGEE1 X 75648505 75648540 + In_Frame_Del CTGAGGGCCCAAGCACCTCCGTTCTGCCCACCTCCG - OCCC_36 p.EGPSTSVLPTSA62del ARID1A 1 27106335 27106335 + Frame_Shift_Ins - TG OCCC_02 p.C1983fs RPTN 1 152129036 152129107 + In_Frame_Del GAATCTCTGTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGG - OCCC_02 p.156_180SHHGQSEKQDRDSHHSQPERQDRDS>S KRTAP5-2 11 1619173 1619232 + In_Frame_Del CCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAG - OCCC_02 p.83_103GSKGGCGSCGGSKGGCGSCGG>G KRT10 17 38975103 38975103 + In_Frame_Ins - GCTGCCGCCGCCGTATCCGCCGCCGCCGCT OCCC_02 p.562_562S>SGGGGYGGGSS HRNR 1 152188893 152188893 + Frame_Shift_Ins - CC OCCC_24 p.S1738fs FLG2 1 152326334 152326334 + Frame_Shift_Ins - GTCA OCCC_24 p.R1310fs LOR 1 153233702 153233776 + In_Frame_Del GGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGT - OCCC_24 p.GGGSSGGGSGCFSSGGGGSGCFSSG93del DSPP 4 88535567 88535626 + In_Frame_Del AGTGACAGCAGTGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGACAGT - OCCC_24 p.SDSSDSSDSDSSDSSNSSDS585del ARID1A 1 27057730 27057792 + In_Frame_Del CAGCAGCAGCCACCCTACTCCCAGCAACCACCGTCCCAGACCCCTCATGCCCAACCTTCGTAT - OCCC_28 p.QQQPPYSQQPPSQTPHAQPSY480del OBSCN 1 228560156 228560191 + In_Frame_Del AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC - OCCC_28 p.EARAESQSEEQQ7227del DSPP 4 88535624 88535659 + In_Frame_Del AGTAGTGACAGCAGTGATAGCAGTGACAGTAGTGAT - OCCC_28 p.SSDSSDSSDSSD604del DSP 6 7580657 7580657 + Frame_Shift_Ins - A OCCC_28 p.L1412fs SPTBN4 19 41078059 41078060 + Frame_Shift_Del CT - OCCC_28 p.A2485fs OBSCN 1 228528946 228528946 + In_Frame_Ins - CGTAGC OCCC_65 p.5949_5950insRS DSPP 4 88536488 88536520 + In_Frame_Del AGTGACAGCAGTGATAGCAGCAACAGCAGTGAT - OCCC_65 p.SDSSDSSNSSD903del ARID1A 1 27094400 27094400 + Frame_Shift_Del G - OCCC_10 p.M1036fs TCHH 1 152080326 152080397 + In_Frame_Del GCGCAGCTGCTGTTCCTCCCTCTCCTGGCGGAGCTGTTCCTCCTCGCGGAATTTTCTGTCGCGCTCCTGGCG - OCCC_10 p.RQERDRKFREEEQLRQEREEQQLR1766del TCHH 1 152081350 152081350 + Frame_Shift_Ins - GCGTC OCCC_10 p.F1448fs SPTBN4 19 40998889 40998889 + Frame_Shift_Ins - GACTGAGGACAACAGAGAGACACGCTCAGCCAAGGATGCAGAGCATCCTT OCCC_10 p.E172fs ARID1A 1 27087894 27087897 + Frame_Shift_Del GCCA - OCCC_58 p.RP727fs ARID1A 1 27107135 27107135 + Frame_Shift_Ins - A OCCC_58 p.S2249fs TCHH 1 152080594 152080641 + In_Frame_Del AGCTGCTGTTCCTCTTCGCGGAATTTTCTGTCACGCTCTTGGCGGCGC - OCCC_58 p.1684_1700LRRQERDRKFREEEQQL>L FLG2 1 152328527 152328529 + In_Frame_Del CAG - OCCC_58 p.578_579TG>S OBSCN 1 228560130 228560171 + In_Frame_Del GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA - OCCC_58 p.SQSEEEEQEEARAE7218del SHROOM3 4 77676310 77676310 + Frame_Shift_Ins - GGAAGTCATCCATGCTATACAACGGGGTTTC OCCC_58 p.-1559fs DSPP 4 88535624 88535659 + In_Frame_Del AGTAGTGACAGCAGTGATAGCAGTGACAGTAGTGAT - OCCC_58 p.SSDSSDSSDSSD604del DSPP 4 88536635 88536652 + In_Frame_Del AGCAGTGACAGCAGTGAT - OCCC_58 p.SSDSSD941del AHNAK 11 62291344 62291364 + In_Frame_Del TGGGCCCTCAATGTTCATACT - OCCC_58 p.SMNIEGP3509del AHNAK 11 62291447 62291461 + In_Frame_Del TTGGGCATTTTCATC - OCCC_58 p.3476_3481KMKMPK>K AHNAK 11 62297524 62297524 + In_Frame_Ins - TCTGGTGTGGATATCTTCTGAGGCTTTATACTCATT OCCC_58 p.1454_1455insEMSIKPQKISTP AHNAK 11 62299078 62299078 + Frame_Shift_Ins - GGCATCTTGAACTTGG OCCC_58 p.-937fs MUC19 12 40877967 40878026 + In_Frame_Del TATCAGCTGGGGTGACAGGGACAACTGGATCACTAGCTGGAGGGACAGGGACAATTGGAC - OCCC_58 p.SAGVTGTTGSLAGGTGTIGL3172del KRT1 12 53073970 53073970 + In_Frame_Ins - ACC OCCC_58 p.54_55insG MINK1 17 4793912 4793932 + In_Frame_Del AACAGCAGCAGCAGCTTCAGA - OCCC_58 p.QQQQLQK484del LAMA5 20 60903371 60903371 + Frame_Shift_Ins - TCACAGCCGACCAGGGGGTGGCAGCCAAAGGTCTGGGACTGCCTTCTGTGCCAGCCCCAGACCTT OCCC_58 p.-1526fs MAGEE1 X 75648522 75648522 + Frame_Shift_Ins - TTGTG OCCC_58 p.S67fs FLG 1 152279728 152279728 + In_Frame_Ins - AAT OCCC_54 p.2545_2545G>D* FLG2 1 152323276 152323276 + Frame_Shift_Del T - OCCC_54 p.Q2329fs OBSCN 1 228509582 228509583 + Frame_Shift_Del CT - OCCC_54 p.L5014fs OBSCN 1 228509583 228509583 + In_Frame_Ins - AAG OCCC_54 p.5014_5014L>QV OBSCN 1 228524709 228524709 + Frame_Shift_Ins - CCTCTGGCTGCCAAGGAGGCCTCCGAGGGCCT OCCC_54 p.-5515fs DSPP 4 88535714 88535719 + In_Frame_Del AGTGAT - OCCC_54 p.SD636del AHNAK 11 62291447 62291461 + In_Frame_Del TTGGGCATTTTCATC - OCCC_54 p.3476_3481KMKMPK>K MUC19 12 40876299 40876328 + In_Frame_Del CAGTATCAGGGACAACTGTACAATCTCTTA - OCCC_54 p.VSGTTVQSLT2616del MUC19 12 40879293 40879322 + In_Frame_Del ACAGGGACAACTGGACTATCAGCTGGAGTC - OCCC_54 p.RDNWTISWSH3614del AHNAK2 14 105411021 105411041 + In_Frame_Del CTTGGGGCCTTTCAGGTCCAG - OCCC_54 p.LDLKGPK3583del MINK1 17 4793920 4793934 + In_Frame_Del CAGCAGCTTCAGAAA - OCCC_54 p.QQLQK486del LAMA5 20 60892819 60892819 + Frame_Shift_Ins - CCACC OCCC_54 p.L2419fs HELZ2 20 62196229 62196229 + In_Frame_Ins - GGTGGCCTGGTCCGACGGGGGCACCCTCAAGCTGAG OCCC_54 p.1315_1316insLSLRVPPSDQAT HRNR 1 152191626 152191626 + In_Frame_Ins - AGAGGA OCCC_12 p.826_827insSS ARID1A 1 27057983 27057983 + Frame_Shift_Ins - AC OCCC_40 p.Q564fs DST 6 56357778 56357778 + In_Frame_Ins - ACGAACACAAGGTATGTA OCCC_40 p.6515_6515P>LHTLCSS AHNAK 11 62297907 62297907 + Frame_Shift_Ins - ATCAGGCATGGAGATCTTGGGGGCCTTGAAGTGCAAGATCTCCATGCCTGATGTGGACCTGA OCCC_40 p.V1328fs AHNAK 11 62298807 62298807 + In_Frame_Ins - CACATTCGCTTTGGACAGGTT OCCC_40 p.1027_1028insNLSKANV MUC19 12 40877680 40877709 + In_Frame_Del GACAGGGACAACTGGAATATTAGCCGGGGT - OCCC_40 p.TGTTGILAGV3076del SPTB 14 65241890 65241890 + In_Frame_Ins - GGCCTCAGCCTCGTCTGCATCCAGGTAGTACTACGAGGCACAGCAGTACTACCT OCCC_40 p.1598_1599insR*YCCAS*YYLDADEAEA AHNAK2 14 105412190 105412193 + Frame_Shift_Del GTTG - OCCC_40 p.QL3199fs MINK1 17 4796340 4796340 + Frame_Shift_Ins - CTCACGGCCAGGCCGGCCCGCAGTGAGTCACCTGGTGA OCCC_40 p.R793fs SPTBN4 19 41025967 41025978 + In_Frame_Del GGGAGGCGCGCA - OCCC_40 p.EARR1189del OBSCN 1 228560156 228560191 + In_Frame_Del AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC - OCCC_23 p.EARAESQSEEQQ7227del DSPP 4 88536089 88536142 + In_Frame_Del AGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGT - OCCC_23 p.SDSSNSSDSSDSSDSSDS759del DST 6 56480945 56480946 + Frame_Shift_Del GG - OCCC_23 p.P2440fs EVPL 17 74005307 74005333 + In_Frame_Del CCAGCACCGGGTCCTTCTCGTGGCGCA - OCCC_23 p.VRHEKDPVL1318del EVPL 17 74017566 74017566 + Frame_Shift_Del C - OCCC_23 p.V332fs MAPK1 22 22221709 22221714 + In_Frame_Del CCGCCG - OCCC_23 p.AA6del MAPK8IP2 22 51044027 51044027 + Frame_Shift_Ins - AACCTGCCGT OCCC_23 p.V361fs FLG 1 152280802 152280802 + Frame_Shift_Ins - TGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGA OCCC_38 p.R2187fs LOR 1 153233780 153233824 + In_Frame_Del GGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGG - OCCC_38 p.GGSSGGGSGCFSSGG134del MSH3 5 79950709 79950717 + In_Frame_Del GCAGCGGCC - OCCC_38 p.AAA58del Gene mutations identified by targeted sequencing in 62 patients with OCCC. We next applied the software tool Control-FREEC to detect unique CNVs in 42 ovarian clear cell tumors. The merged copy number pattern of the 42 patients showed arm-level and focal SCNAs across all chromosomes ( Fig. 2 ). While many small amplified/deleted regions were detected across the genome, there were five large blocks of amplifications (spanning >1 Mb) involving chr8q, which includes MYC; chr20q, which includes ZNF217; and chr17q, which includes ERBB2, PPP1R1B, and TBC1D3. Other loci, including the PIK3CA, EIF3E and CDH17 loci, were also amplified (11.9%, 47.6%, and 35.7% of samples, respectively). On the other hand, frequent large blocks of deletions were observed on chr9q in the region including NOTCH1 and PAEP (19% and 16.6%). Fig. 2 Somatic copy number aberrations (SCNA) landscape in 42 OCCC samples. Deletions and amplifications are indicated by boxes in different shades of blue and red, respectively. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Somatic copy number aberrations (SCNA) landscape in 42 OCCC samples. Deletions and amplifications are indicated by boxes in different shades of blue and red, respectively. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) At the chromosome arm level, we examined focal somatic copy number alterations by performing GISTIC 2.0 analysis and found that the amplified loci in OCCC samples were at 19q, 2q, 8q, 17q, 1p, 1q, 5q, 12q, and 20q, and the deletions common to the data set were at 19p, 11p, 16p, 9q, 21q, 1p, 7q, 17q, 11q, 16q, 19q, 4p and 2q (cutoff q-value <0.01) ( Fig. S4 ). All focal genes identified by GISTIC 2.0 are shown in Table S9 (amplification cutoff = 0.1, deletion cutoff = -0.1, cutoff q value <0.05). To discover the important altered pathways in OCCC, we performed an integrative analysis of single nucleotide variant (SNV) data and copy number variant (CNV) data and selected recurrently mutated genes in two or more individuals that mapped to canonical cancer pathways using MSigDB and frequent alterations across multiple pathways, including p53 effectors, NGF signaling, focal adhesion, and PTEN-dependent cell cycle arrest and apoptosis ( Table 3 and Fig. 5S ). KEGG pathway enrichment analysis further identified significant overlaps ( q value <0.001) with KEGG cancer, platinum drug resistance and the AMPK signaling pathway ( Table S10 ). Table 3 MSigDB canonical pathway database enrichment for recurrent mutant genes in OCCC samples. This table presents the top 20 modules. Module: name of the module. Gene Set Name Genes in Gene Set (K) Description Genes in Overlap (k) k/K p -value FDR q -value KEGG_PATHWAYS_IN_CANCER 328 Pathways in cancer 25 0.0762 5.43E−18 7.22E−15 PID_P53_DOWNSTREAM_PATHWAY 137 Direct p53 effectors 13 0.0949 3.58E−11 2.18E−08 KEGG_TYPE_II_DIABETES_MELLITUS 47 Type II diabetes mellitus 9 0.1915 6.19E−11 2.18E−08 KEGG_PROSTATE_CANCER 89 Prostate cancer 11 0.1236 6.55E−11 2.18E−08 REACTOME_DEVELOPMENTAL_BIOLOGY 396 Genes involved in Developmental Biology 19 0.048 1.82E−10 4.84E−08 REACTOME_SIGNALLING_BY_NGF 217 Genes involved in Signalling by NGF 14 0.0645 1.08E−09 2.39E−07 KEGG_THYROID_CANCER 29 Thyroid cancer 7 0.2414 1.52E−09 2.84E−07 SIG_PIP3_SIGNALING_IN_CARDIAC_MYOCTES 67 Genes related to PIP3 signaling in cardiac myocytes 9 0.1343 1.71E−09 2.84E−07 KEGG_FOCAL_ADHESION 201 Focal adhesion 13 0.0647 4.15E−09 6.13E−07 REACTOME_IMMUNE_SYSTEM 933 Genes involved in Immune System 26 0.0279 9.84E−09 1.31E−06 KEGG_COLORECTAL_CANCER 62 Colorectal cancer 8 0.129 1.93E−08 2.33E−06 REACTOME_ADAPTIVE_IMMUNE_SYSTEM 539 Genes involved in Adaptive Immune System 19 0.0353 2.77E−08 3.07E−06 KEGG_NOTCH_SIGNALING_PATHWAY 47 Notch signaling pathway 7 0.1489 5.45E−08 5.58E−06 PID_HES_HEY_PATHWAY 48 Notch−mediated HES/HEY network 7 0.1458 6.34E−08 6.02E−06 SIG_INSULIN_RECEPTOR_PATHWAY_IN_CARDIAC_MYOCYTES 51 Genes related to the insulin receptor pathway 7 0.1373 9.79E−08 8.67E−06 KEGG_ENDOMETRIAL_CANCER 52 Endometrial cancer 7 0.1346 1.12E−07 9.34E−06 REACTOME_SIGNALING_BY_FGFR 112 Genes involved in Signaling by FGFR 9 0.0804 1.64E−07 1.12E−05 PID_FGF_PATHWAY 55 FGF signaling pathway 7 0.1273 1.67E−07 1.12E−05 BIOCARTA_ERK5_PATHWAY 18 Role of Erk5 in Neuronal Survival 5 0.2778 1.68E−07 1.12E−05 BIOCARTA_PTEN_PATHWAY 18 PTEN dependent cell cycle arrest and apoptosis 5 0.2778 1.68E−07 1.12E−05 MSigDB canonical pathway database enrichment for recurrent mutant genes in OCCC samples. This table presents the top 20 modules. Module: name of the module. Given that the four functional protein activating pathways, including the (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway, TP53 pathway, ERBB2 pathway, and chromatin remolding pathways were more frequently activated in OCCCs, these pathways represent potential therapeutic pathways for targeted treatment approaches ( Fig. 3 ). Of the 42 samples, 35 (83%) contained at least one mutation in one of the four pathways. The PI3K/AKT, TP53, ERBB2, and chromatin remolding pathways were mutated in 83%, 67%, 40% and 71% of cases, respectively ( Fig. S6 ). Fig. 3 Somatically altered pathways in OCCC patients. (a) Somatically altered genes in the PI3K/AKT, (b) TP53, (c) ERBB2 and (d) chromatin remolding pathways. Non-synonymous somatic mutations and copy number deletions were considered as inactivating mutations (shades of blue), while copy number amplifications were considered as activating mutations (shades of red). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) Somatically altered pathways in OCCC patients. (a) Somatically altered genes in the PI3K/AKT, (b) TP53, (c) ERBB2 and (d) chromatin remolding pathways. Non-synonymous somatic mutations and copy number deletions were considered as inactivating mutations (shades of blue), while copy number amplifications were considered as activating mutations (shades of red). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) For the WES cohort of 42 OCCC cases, the median follow-up time was 27.6 months, and 78% of patients were alive at the time of last follow-up. Kaplan-Meier analysis with the log-rank test revealed a shorter survival period for the 42 OCCC patients with PLEC mutations (HR 0.27, 95% confidence interval 0.76 to 0.04, P  = 0.004) or CDC27 mutations (HR 3.6, 95% confidence interval 1.2 to 10.7, P  = 0.035) than for those without the corresponding mutation ( Fig. S7 ). In addition, based on the targeted sequencing data, the OS was not significantly different between the PLEC or CDC27 mutation-positive patients and the wild-type patients ( P  = 0.227 or P  = 0.954) ( Fig. S7 ). However, the OS analysis of OCCC patients grouped by MAGEE1 mutation revealed that OCCC patients with MAGEE1 mutations had a shorter survival time than those without MAGEE1 mutations (log-rank p  < 0.05) ( Fig. 4 ). The OBSCN mutation was found to have a significant effect on overall survival in all OCCC patients ( Fig. 4 ). The human OBSCN gene on chromosome 1q42.13 region is comprised of over 80 exons and encodes a ∼720 kDa protein. The OBSCN gene is frequently and consistently mutated in various cancers with a strong correlation with breast, colorectal and other female related cancers [15] . For known OCCC driver genes, such as ARID1A , PIK3CA and PPP2R1A , no survival difference was observed based on the presence of genetic abnormalities. These data suggest that mutations in these genes may represent a poor prognostic factor and are likely involved in the pathogenesis of OCCC. Fig. 4 Kaplan-Meier estimate of overall survival by OBSCN mutational status (a) and MAGEE1 mutational status (b). Patients with tumors harboring mutations had significantly worse overall survival than those with corresponding WT genes in their tumors (log-rank test, OBSCN P  = 0.042; MAGEE1 P  = 0.043). Kaplan-Meier estimate of overall survival by OBSCN mutational status (a) and MAGEE1 mutational status (b). Patients with tumors harboring mutations had significantly worse overall survival than those with corresponding WT genes in their tumors (log-rank test, OBSCN P  = 0.042; MAGEE1 P  = 0.043). To further elucidate the relevance of MAGEE1 to OCCC progression, we first analyzed MAGEE1 levels in OCCC cell lines ( Fig. 5 a). Then, we performed a functional assay and found that MAGEE1 overexpression significantly decreased the viability of OCCC cells ( Fig. 5 c). MAGEE1 contains a nuclear localization signal in the N-terminal region and two MAGE domains in the C-terminal region. To determine whether the two domains of the MAGEE1 gene are associated with proliferation, OVISIE and ES-2 cells expressing the MAGEE1 mutants (MAGEE1-mut1 and MAGEE1-mut2) were constructed and analyzed ( Fig. 5 b). CCK8 assays revealed that both OVISIE and ES-2 cells transfected with MAGEE1-mut1 or MAGEE1-mut2 exhibited a significant decrease in cell proliferation ( Fig. 5 c), suggesting that both domains of the MAGEE1 gene are closely associated with OCCC cell proliferation. However, the viability of OCCC cells transfected with the MAGEE1-mut2 was lower than that of cells transfected with the MAGEE1-mut1, revealing that the second domain of MAGEE1 has a greater contribution to OCCC cell proliferation. Fig. 5 MAGEE1 overexpression inhibits cell viability in vitro. (a) The expression of MAGEE1 in the ES-2 and OVISE cell lines transfected with empty vector control (NC), MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2 was determined by RT-PCR. (b) Western blotting of MAGEE1 expression levels in ES-2 and OVISE cells transfected with empty vector control (NC), MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2. (c) CCK8 assay showed a significant reduction in the viability of cells transfected with MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2 compared to cells transdfected with empty vector control (NC). MAGEE1 overexpression inhibits cell viability in vitro. (a) The expression of MAGEE1 in the ES-2 and OVISE cell lines transfected with empty vector control (NC), MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2 was determined by RT-PCR. (b) Western blotting of MAGEE1 expression levels in ES-2 and OVISE cells transfected with empty vector control (NC), MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2. (c) CCK8 assay showed a significant reduction in the viability of cells transfected with MAGEE1-WT, MAGEE1-Mut1 or Magee1-Mut2 compared to cells transdfected with empty vector control (NC).

No potential conflicts of interest were disclosed.

Patients enrolled in this study were pathologically diagnosed with ovarian clear cell carcinoma between January 2008 and December 2016. Tissue samples were collected from formalin-fixed, paraffin-embedded (FFPE) blocks of tumor tissue from 69 ovarian clear cell cancer patients. The use of samples and medical records was approved by the research ethics committees of Shanghai University of Medicine & Health Sciences Affiliated with Sixth People’s Hospital South Campus (approval number: 2017-KY-01), Fujian Provincial Maternity and Children's Hospital (approval number: 2017049), Nanjing Medical University Affiliated with Changzhou Maternal and Child Health Care Hospital (approval number: 2017005), Nanjing Medical University Affiliated with Changzhou No. 2 People’s Hospital (approval number: 2016-017-01), and Nanjing Medical University Affiliated with Suzhou Municipal Hospital (approval number: L2017003). Genomic DNA was extracted from tumor areas of tissue sections from the FFPE blocks using the QIAGEN GeneRead DNA FFPE Kit (ID: 762174; this kit helps reduce errors due to DNA deamination caused by formalin fixation and aging). Sequencing data were generated as detailed previously. In brief, whole-exome capture libraries were constructed from tumor and normal DNA after sample shearing, end repair, phosphorylation, and ligation to barcoded sequencing adaptors. DNA then underwent solution-phase hybrid capture with SureSelect v.2 Exome bait (Agilent Technologies), followed by sample multiplexing and sequencing on an Illumina HiSeq X Ten instrument. Raw sequencing reads were trimmed with Trimmomatic to filter low-quality reads. Clean reads were aligned to the reference human genome (UCSC, hg19) using Burrows-Wheeler Aligner (BWA). Duplicates were identified by Picard, and the remaining outputs were locally realigned using the Genome Analysis Toolkit (GATK). We detected somatic mutations with the MuTect algorithm and somatic indels based on concordant events identified by the Indelocator algorithm. To remove artifacts from the hydrolytic deamination of cytosine to uracil in FFPE samples, we filtered out C > T mutations consistent with a 20:1 single-strand bias based on read pair orientation. We used the eDriver, OncodriveFML, ActiveDriver, MutSigCV, Genome MuSic and OncodriveCLUST tools to infer significantly mutated genes. Hypermutated tumors are defined as those with a mutation count >1000. All somatic variants were annotated in dbSNP138, the 1000 Genomes Project and EXAC by ANNOVAR. Variants with allele frequencies greater than 0.5% of the allelic fraction in these databases were removed. For targeted ultradeep sequencing of 56 genes, the Illumina HiSeq platform was used. After samples were library prepped and run on the HiSeq platform, reads were mapped to hg19 using BWA, and realigned using GATK. Variants were called using GATK. For targeted ultradeep sequencing, we required a depth ≥200 and a quality score ≥20. Canonical cancer pathways were selected from MSigDB (including 1329 gene sets). The list of genes with recurrent mutations, including functional SNVs and CNVs, was analyzed. Pathway enrichment analyses of genes harboring somatic SNVs and CNVs were performed with KEGG or Gene Ontology by using the clusterProfiler package in R. P-values were calculated based on a hypergeometric distribution with FDR correction using the Benjamini method. The OCCC cell lines OVISE and ES-2 were both preserved in Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University. OVISE was cultured in RPMI 1640 medium, and ES-2 cells were cultured in McCoy’s 5A medium, containing 10% fetal bovine serum (FBS) and 1% antibiotics (100 μg/ml streptomycin and 100 units/ml penicillin). All cells were incubated at 37 °C in a humidified atmosphere containing 5% CO 2 . The MAGEE1 wild-type (MAGEE1-WT) sequence was obtained from Asia-vector Biotechnology Co., Ltd (Shanghai, China). Two mutants were constructed, mut1 lacking two MAGE domains and mut2 containing two MAGE domains. The hemagglutinin (HA) tag was added to the C terminus of the MAGEE1 mutants. All constructs were verified by sequencing. Cell transduction steps were performed according to the manufacturer’s protocols using Lipofectamine™ 3000 Transfection Reagent (Thermo Fisher Scientific). Total RNA was extracted from OCCC cell lines by using TRIzol (Invitrogen, Carlsbad, CA, USA). Reverse transcription was performed as previously described [14] . β-Actin was used as internal control for quantification. The data were analyzed using the 2 −ΔΔCt method. The primer sequences used in our study were as follows: MAGEE1-F, 5′-CCCAGAAGAGGTGACGG-3′; MAGEE1-R, 5′-GCAGCAGGAAGATG AGGA-3′; β-Actin-F, 5′-CTCTGGCTCCTAGCACCATGAAGA-3′; β-Actin-R, 5′-GTAAAACGCAGCTCAGTAACAGTCCG-3′. Western blot analysis was performed as described previously [14] . The membranes were incubated overnight at 4 °C with primary antibodies against HA (ab18181; Abcam) and β-actin (M1210-1, Huabio, Hangzhou, China), followed by incubation with species-specific secondary antibodies for 1 h. The signals were detected by an Odyssey infrared imaging system (LI-COR, Lincoln, NE) and further quantified by ImageJ software. To measure cell proliferation, cells were seeded at 2000 cells/well in a 96-well plate and detected by Cell Counting Kit-8 (CCK8, Dojindo, Japan) after 0, 1, 2, 3, and 4 days. The experiments were performed in triplicate and repeated twice. Known prognostic factors for OCCC were recorded for each patient, as shown in Table 1 . The characteristics of patients in different groups were compared using Fisher’s exact test (for categorical data) or the Mann-Whitney test (for continuous data). Only 57 patients with complete follow-up clinical data were included in the survival analysis. OS was calculated based from the date of OCCC diagnosis to the data of death from disease or the last follow-up. The Kaplan-Meier method was used to estimate the OS distribution, and differences in survival between groups were assessed using the log rank test. P values less than 0.05 indicated statistical significance. R software was used to perform all statistical analyses and generate all graphs. Table 1 The clinical pathological characteristics in OCCC patients Sample Age Grade Status OS Chemotherapy Endometriosis WES Target OCCC_01 64 II Alive 2124 Y N Y Y OCCC_02 35 I Alive 1946 Y N Y Y OCCC_03 50 IC Alive 933 Y N Y Y OCCC_04 52 IA Alive 455 Y Y Y Y OCCC_05 59 IIIA Dead 902 Y Y Y Y OCCC_06 45 IA Alive 455 Y N Y Y OCCC_07 43 IIC Dead 908 Y N Y Y OCCC_08 56 IA Alive 455 Y Y Y Y OCCC_09 59 IC Alive 1978 Y N Y Y OCCC_10 60 IC Alive 360 Y N Y Y OCCC_11 46 IIC Dead 1234 Y N Y Y OCCC_12 50 IC Alive 392 Y N Y Y OCCC_13 43 IC Alive 850 N Y Y Y OCCC_14 48 IC Alive 265 Y Y Y Y OCCC_15 53 I Alive 758 Y Y Y Y OCCC_16 49 II Dead 545 Y Y Y Y OCCC_17 50 IC Alive 708 Y Y Y Y OCCC_18 50 II Alive 568 N N Y Y OCCC_19 64 IA Alive 1551 Y N Y Y OCCC_20 53 II Alive 600 Y Y Y Y OCCC_21 53 I Alive 517 Y Y Y Y OCCC_22 40 IA Alive 600 Y N Y Y OCCC_23 33 IA Alive 517 Y N Y Y OCCC_24 63 IA Alive 517 Y N Y Y OCCC_25 37 IIIC Dead 336 Y Y Y Y OCCC_26 44 IC Alive 1267 Y N Y Y OCCC_27 56 IC Dead 631 Y N Y Y OCCC_28 52 IB Alive 423 N N Y Y OCCC_29 70 IIB Dead 301 N N Y Y OCCC_30 61 IC Alive 455 Y N Y Y OCCC_31 38 IA Alive 1946 Y N Y Y OCCC_32 51 IA Alive 933 Y N Y Y OCCC_33 65 III Alive 1580 Y N Y Y OCCC_34 47 IA Alive 789 Y N Y Y OCCC_35 40 IC Alive 1393 Y Y Y Y OCCC_36 54 IC Alive 423 Y Y Y Y OCCC_37 32 IC Dead 268 Y Y Y Y OCCC_38 58 IIIC Alive 1293 Y N Y Y OCCC_39 54 IIIC Alive 1632 Y Y Y Y OCCC_40 41 IIIB Alive 392 Y Y Y Y OCCC_41 74 IIIC Dead 63 N N Y Y OCCC_42 51 IIIC Dead 533 Y Y Y Y OCCC_43 56 IIIB Dead 122 N N N Y OCCC_44 66 II Alive 392 Y N N Y OCCC_45 81 IB Dead 2854 N N N Y OCCC_46 54 IIIC Alive 2584 Y N N Y OCCC_47 42 IA Alive 1821 Y N N Y OCCC_48 45 I Alive 3282 Y Y N Y OCCC_49 68 IIIC Dead 300 Y N N Y OCCC_50 54 IA Alive 1361 Y N N Y OCCC_51 54 IA Alive 1361 Y N N Y OCCC_52 43 IIC Alive 1519 Y Y N Y OCCC_53 55 IC Alive 1393 Y N N Y OCCC_54 58 IA Alive 1884 Y N N Y OCCC_55 34 IA Alive 2708 Y N N Y OCCC_56 53 I Alive 2394 Y Y N Y OCCC_57 53 II Alive 758 Y Y N Y OCCC_58 57 IIB Alive 2310 Y N N Y OCCC_59 45 I Alive 2311 Y Y N Y OCCC_60 46 IC Alive 1695 Y N N Y OCCC_61 60 IA Alive 600 Y N N Y OCCC_62 57 IC Alive 663 Y N N Y OCCC_63 50 III Alive 1425 Y N N Y OCCC_64 45 IC Dead 724 Y Y N Y OCCC_65 54 IC Alive 600 Y N N Y OCCC_66 30 IB Alive 663 Y N N Y OCCC_67 51 IA Alive 2886 Y Y N Y OCCC_68 47 II Alive 2332 Y N N Y OCCC_69 64 I Alive 120 Y Y N Y The clinical pathological characteristics in OCCC patients

OCCC is one of the most malignant subtypes of epithelial ovarian cancer and is more prevalent in Asians (11.1% of total EOC cases) than in Caucasians or Africans in the USA (4.8 and 3.1%, respectively) [16] , [17] . OCCC is a rare form or subtype of epithelial ovarian cancer that has a unique structure (morphology), unfavorable prognosis, and chemotherapeutic resistance. Most notably, ARID1A and PIK3CA were the most frequently mutated genes in OCCC patients. Yasuda et al. indicated that ARID1A and PIK3CA was the most frequently mutated gene, occurring in approximately 66.7% and 50% of patients with OCCC ( n  = 48) in Japanese women using whole exome sequencing [12] . In addition, Seo et al. revealed that PIK3CA mutations and ARID1A were found in 40% and 40% in the 15 Korean OCCCs using whole exome sequencing [11] . In another study, ARID1A mutations and PIK3CA mutations were detected in 77.8% and 66.7% of OCCC ( n  = 16) in the Taiwanese population using targeted sequencing [18] . In the present study, we successfully characterized the genomic landscape of 69 Chinese patients with OCCC. To our knowledge, this is the first report of an NGS WES study in Chinese patients with OCCC. The most frequent mutated gene identified in this study was the ARID1A gene (66.7%, 32/48), which encodes a key component of the SWI/SNF chromatin-remodeling complex that is conserved in all eukaryotes, plays an important role in controlling gene expression and is critical in development, differentiation, and tumor suppression. Although the frequency of somatic ARID1A mutations in OCCC was recently published to be 46% and 57% based on whole-exome and transcriptome sequencing analyses, respectively, the frequency reported in this study was 66.7%. The frequency of ARID1A mutations in this study was slightly higher than that in a previous report, but the difference was not statistically significant. Mutation of the SWI/SNF-related gene SMARCA2 was identified in six cases; hence other genes in the ARID1 pathway may be mutated in the remaining cases. Other known OCCC-related genes were also frequently mutated, including PIK3CA (50%, 24/48), PPP2R1A (18.8%, 9/48) and KRAS (16.7%, 8/48) ( Fig. 3 ). MAGEE1 was also predicted to be a cancer driver gene by three independent mutation prediction algorithms. MAGEE1 is a member of the melanoma antigen gene (MAGE) family and is encoded on the X chromosome, spanning one exon, containing 957 amino acids. The MAGE family has garnered growing interest as cancer biomarkers and immunotherapy targets because a subset of these human proteins has been classified as cancer-testis antigens (CTAs), which have restricted expression in the testis (and occasionally in the ovary and placenta) and are aberrantly re-expressed in cancer and can be immunogenic. Collectively, MAGE genes have been found to be broadly expressed in many tumor types, including colon, melanoma, brain, lung, prostate, and breast cancer, among others. Furthermore, MAGEE1 is mutated frequently enough to be classified as a candidate cancer gene (CAN-gene) in breast cancer and thus potentially a driver of tumorigenesis. In this study, mutations in MAGEE1 were found in eight patients in the WES cohort and fifth patients in the targeted sequencing cohort. The other genes, including MUC4, ARID3A, FLG2, TCHH, GRM3, MUC17, ZNF208 and GAGE12J , were identified as novel SMGs in our study. MUC4 and MUC17 are related to cell apoptosis/anti-adhesive [19] and cell restitution processes [20] , respectively, and we identified somatic mutations in these genes in 28.6% and 23.8% of OCCC samples, respectively. ARID3A, FLG2, TCHH, GRM3, ZNF208, and GAGE12J were mutated in 4.8% to 28.6% of samples, respectively. ARID3A is a member of the human AT-rich interaction domain (ARID) family, is located at 19p13.3, and is a nuclear matrix-associated transcription factor that blocks cell differentiation and promotes cell proliferation [21] . The FLG2 gene encodes a histidine- and glutamine-rich protein of approximately 248 kDa belonging to the fibrinogen-related protein superfamily that has apoptotic effects on effector T-cells and prevents the maturation of dendritic cells [22] . TCHH (trichohyalin) is a member of the S100-fused type proteins (SFTP) family and probably contributes to tumorigenic processes such as cell proliferation, metastasis, angiogenesis and immune evasion [23] . GRM3 is a group II metabotropic glutamate receptors that activates the AKT signaling pathway [24] . Additionally, mutations in GRM3 that lead to constitutive receptor activation have been shown to provide cell proliferation and survival signals in melanoma [25] . ZNF208 is a member of the zinc finger family of proteins that bind to DNA through a series of zinc finger motifs and regulate gene transcription [26] . Mutations in ZNF208 have been observed in gastric cancer [27] . The GAGE12J gene is located on the X chromosome and encodes a cancer-testis antigens that promotes gastric cancer growth and metastasis by modulating the expression of gastric cancer metastasis-related genes [28] . This current study has several limitations. First, the study population of this retrospective case-control study was small ( n  = 69). Second, the median follow-up time was 58 months from the SEER database for patients with white and Asian. And early-stage OCCC confined to ovary has favorable prognosis. Regarding the stage of disease ( n  = 69) in our cohort, it was stage I in 45(65.2%), stage II in 12 (17.4%), stage III in 12(17.4%). The median followup of 27.6 months in our cohort is relatively short and 78% of patients were alive at last followup. Therefore, this is a limit regarding the impact of reported mutations on survival outcomes. Third, the expression of the genes with somatic mutations was not investigated. Paired tumor/normal whole transcriptome sequencing or microarray analyses to discover the effects of genetic alterations would improve the accuracy and completeness of the genomic profiling results. Despite these limitations, this study is the first to use whole exome sequencing to genetically characterize OCCC in an Asian population. By analyzing cancer tissue samples and matched normal samples from individual OCCC patients, integrative somatic analyses were completed.

In conclusion, the present study successfully characterized the genomic landscape of 69 patients with OCCC. We identified potential therapeutic targets for the treatment of OCCC. Additional larger studies including whole transcriptome sequencing to determine the effects of genetic alterations are warranted.

Among gynecologic malignancies, ovarian cancer is the second most common and the most deadly globally in 2020 cancer statistics [1] . Epithelial ovarian cancer accounts for over 80% of the malignant ovarian cancer cases [2] and consists of four major histological tumor subtypes, including serous, clear-cell, endometrioid, and mucinous [3] . Among the histological subtypes, ovarian clear cell carcinoma (OCCC) accounts for approximately 5% of all epithelial ovarian cancers, with an occurrence rate above 20% in certain Asian populations [4] . In addition, women with advanced OCCC have poorer survival outcomes. OCCC is a distinct subtype with a lower response rate than the serous subtype to platinum-based chemotherapy [5] , [6] , [7] . Although OCCC is the second leading cause of death from ovarian cancer, the etiology and pathogenesis of this devastating disease are poorly understood. The molecular characterization of solid tumors by whole genome or exome sequencing has provided important insights in cancer biology. Somatic mutations found in cancer may suggest personalized treatments options. OCCC-specific somatic mutations are clustered in AT-rich interactive domain 1A (SWI-like) ( ARID1A ), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit alpha ( PIK3CA ), protein phosphatase 2 scaffold subunit alpha ( PPP2R1A ) and K-ras ( KRAS ) [8] , [9] , [10] , [11] , [12] . Somatic copy number amplification of the ZNF217 gene in OCCC was also previously reported [13] . In this study, we obtained whole-exome sequencing (WES) data for Asian OCCC samples via next-generation sequencing (NGS) and integrated the independent single-nucleotide variant (SNV) and copy number variant (CNV) analyses to better elucidate the genomic architecture of our OCCC samples. To detect both high- and low-frequency pathogenic mutations, we performed targeted sequencing of a large cohort of 69 OCCC tumors and matched normal tissues. Finally, we validated recurrent mutants in several genes, including MAGEE1 in OCCC. Patients with alterations in MAGEE1 had worse clinical outcomes. The expression of mutant MAGEE1 significantly decreased the proliferative capacity of OCCC cells. These results indicate that MAGEE1-targeted drugs could guide the future development of therapeutic strategies for OCCC.